Linked Data
ClinVar Variation Id:
1684153
ClinVar RCV Id:
RCV002245153
dbSNP Id:
rs2045273679
MutSpliceDB:
CA412800622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45079145G>C , CM000685.2:g.45079145G>C | GRCh38 |
| NC_000023.10:g.44938390G>C , CM000685.1:g.44938390G>C | GRCh37 |
| NC_000023.9:g.44823334G>C | NCBI36 |
| NG_016260.1:g.210968G>C , LRG_616:g.210968G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682908.1:c.2839-1G>C | ENSP00000508158.1:n.2839-1G>C | |
| ENST00000683021.1:c.2858-1G>C | ENSP00000507416.1:n.2858-1G>C | |
| ENST00000683425.1:c.*2422-1G>C | ENSP00000507291.1:n.*2422-1G>C | |
| ENST00000684352.1:c.2869-1G>C | ENSP00000508379.1:n.2869-1G>C | |
| ENST00000377967.9:c.2939-1G>C | ENSP00000367203.4:n.2939-1G>C | |
| ENST00000382899.9:c.2960-1G>C | ENSP00000372355.6:n.2960-1G>C | |
| ENST00000536777.6:c.2804-1G>C | ENSP00000437405.3:n.2804-1G>C | |
| ENST00000543216.6:c.2702-1G>C | ENSP00000443078.3:n.2702-1G>C | |
| ENST00000611820.5:c.3095-1G>C MANE Select | ENSP00000483595.2:n.3095-1G>C | |
| ENST00000674541.1:c.*2227-1G>C | ENSP00000501919.1:n.*2227-1G>C | |
| ENST00000674564.1:c.2858-1G>C | ENSP00000502150.1:n.2858-1G>C | |
| ENST00000674586.1:c.3017-1G>C | ENSP00000502660.1:n.3017-1G>C | |
| ENST00000674659.1:c.*2382+640G>C | ENSP00000502255.1:n.*2382+640G>C | |
| ENST00000674739.1:n.3997-1G>C | ||
| ENST00000674867.1:c.2801-1G>C | ENSP00000502060.1:n.2801-1G>C | |
| ENST00000675157.1:n.2546-1G>C | ||
| ENST00000675182.1:n.2979-1G>C | ||
| ENST00000675440.1:n.3115-1G>C | ||
| ENST00000675514.1:c.2939-1G>C | ENSP00000502759.1:n.2939-1G>C | |
| ENST00000675525.1:n.5061-1G>C | ||
| ENST00000675546.1:n.9645-1G>C | ||
| ENST00000675577.1:c.2837-1G>C | ENSP00000501855.1:n.2837-1G>C | |
| ENST00000675816.1:n.3115-1G>C | ||
| ENST00000676026.1:n.567G>C | ||
| ENST00000676062.1:c.2960-1G>C | ENSP00000502311.1:n.2960-1G>C | |
| ENST00000676085.1:c.*2125-1G>C | ENSP00000501752.1:n.*2125-1G>C | |
| ENST00000676133.1:c.*2992-1G>C | ENSP00000502586.1:n.*2992-1G>C | |
| ENST00000676343.1:c.2960-1G>C | ENSP00000501761.1:n.2960-1G>C | |
| ENST00000676389.1:n.3382-1G>C | ||
| ENST00000377967.8:c.2939-1G>C | ENSP00000367203.4:n.2939-1G>C | |
| ENST00000382899.8:c.2888-1G>C | ENSP00000372355.5:n.2888-1G>C | |
| ENST00000414389.5:c.1731-1G>C | ||
| ENST00000433797.5:c.1866-1G>C | ||
| ENST00000536777.5:c.2732-1G>C | ENSP00000437405.2:n.2732-1G>C | |
| ENST00000543216.5:c.2786-1G>C | ENSP00000443078.2:n.2786-1G>C | |
| ENST00000611820.4:c.3023-1G>C | ENSP00000483595.1:n.3023-1G>C | |
| ENST00000621147.4:c.2595+652G>C | ENSP00000478793.1:n.2595+652G>C | |
| NM_001291415.1:c.3095-1G>C , LRG_616t1:c.3095-1G>C | NP_001278344.1:n.3095-1G>C | |
| NM_001291416.1:c.2960-1G>C | NP_001278345.1:n.2960-1G>C | |
| NM_001291417.1:c.2804-1G>C | NP_001278346.1:n.2804-1G>C | |
| NM_001291418.1:c.2702-1G>C | NP_001278347.1:n.2702-1G>C | |
| NM_001291421.1:c.2051-1G>C | NP_001278350.1:n.2051-1G>C | |
| NM_021140.3:c.2939-1G>C | NP_066963.2:n.2939-1G>C | |
| NR_111960.1:n.3235-1G>C | ||
| XM_005272656.3:c.2993-1G>C | XP_005272713.1:n.2993-1G>C | |
| XM_005272659.3:c.2837-1G>C | XP_005272716.1:n.2837-1G>C | |
| XM_011543957.1:c.3152-1G>C | XP_011542259.1:n.3152-1G>C | |
| XM_011543958.1:c.3095-1G>C | XP_011542260.1:n.3095-1G>C | |
| XM_011543959.1:c.3050-1G>C | XP_011542261.1:n.3050-1G>C | |
| XM_011543960.1:c.3152-1G>C | XP_011542262.1:n.3152-1G>C | |
| XM_011543961.1:c.3017-1G>C | XP_011542263.1:n.3017-1G>C | |
| XM_011543962.1:c.2996-1G>C | XP_011542264.1:n.2996-1G>C | |
| XM_011543963.1:c.2960-1G>C | XP_011542265.1:n.2960-1G>C | |
| XM_011543964.1:c.2939-1G>C | XP_011542266.1:n.2939-1G>C | |
| XM_011543965.1:c.2915-1G>C | XP_011542267.1:n.2915-1G>C | |
| XM_011543966.1:c.2894-1G>C | XP_011542268.1:n.2894-1G>C | |
| XM_011543967.1:c.2996-1G>C | XP_011542269.1:n.2996-1G>C | |
| XM_011543968.1:c.2861-1G>C | XP_011542270.1:n.2861-1G>C | |
| XM_011543969.1:c.2858-1G>C | XP_011542271.1:n.2858-1G>C | |
| XM_011543970.1:c.2837-1G>C | XP_011542272.1:n.2837-1G>C | |
| XM_011543971.1:c.2915-1G>C | XP_011542273.1:n.2915-1G>C | |
| XM_011543972.1:c.2804-1G>C | XP_011542274.1:n.2804-1G>C | |
| XM_011543973.1:c.2861-1G>C | XP_011542275.1:n.2861-1G>C | |
| XM_011543974.1:c.2939-1G>C | XP_011542276.1:n.2939-1G>C | |
| XM_011543975.1:c.2342-1G>C | XP_011542277.1:n.2342-1G>C | |
| XM_011543976.1:c.3152-1G>C | XP_011542278.1:n.3152-1G>C | |
| XR_949018.1:n.3529-1G>C | ||
| XM_005272656.5:c.2993-1G>C | XP_005272713.1:n.2993-1G>C | |
| XM_005272659.5:c.2837-1G>C | XP_005272716.1:n.2837-1G>C | |
| XM_011543958.3:c.3095-1G>C | XP_011542260.1:n.3095-1G>C | |
| XM_011543963.3:c.2960-1G>C | XP_011542265.1:n.2960-1G>C | |
| XM_011543964.3:c.2939-1G>C | XP_011542266.1:n.2939-1G>C | |
| XM_011543969.3:c.2858-1G>C | XP_011542271.1:n.2858-1G>C | |
| XM_011543970.3:c.2837-1G>C | XP_011542272.1:n.2837-1G>C | |
| XM_011543972.3:c.2804-1G>C | XP_011542274.1:n.2804-1G>C | |
| XM_011543974.2:c.2939-1G>C | XP_011542276.1:n.2939-1G>C | |
| XM_011543975.2:c.2342-1G>C | XP_011542277.1:n.2342-1G>C | |
| XM_017029783.2:c.2858-1G>C | XP_016885272.1:n.2858-1G>C | |
| XM_017029784.1:c.2207-1G>C | XP_016885273.1:n.2207-1G>C | |
| XM_017029785.1:c.1949-1G>C | XP_016885274.1:n.1949-1G>C | |
| XM_024452438.1:c.2993-1G>C | XP_024308206.1:n.2993-1G>C | |
| XM_024452439.1:c.2570-1G>C | XP_024308207.1:n.2570-1G>C | |
| XR_002958804.1:n.3465-1G>C | ||
| NM_001291415.2:c.3095-1G>C MANE Select | NP_001278344.1:n.3095-1G>C | |
| NM_001291416.2:c.2960-1G>C | NP_001278345.1:n.2960-1G>C | |
| NM_001291417.2:c.2804-1G>C | NP_001278346.1:n.2804-1G>C | |
| NM_001291418.2:c.2702-1G>C | NP_001278347.1:n.2702-1G>C | |
| NM_001291421.2:c.2051-1G>C | NP_001278350.1:n.2051-1G>C | |
| NM_021140.4:c.2939-1G>C | NP_066963.2:n.2939-1G>C | |
| NR_111960.2:n.3222-1G>C |