Linked Data
ClinVar Variation Id:
255676
ClinVar RCV Id:
RCV000252600
dbSNP Id:
rs576611266
ExAC:
9:98230987 G / A
gnomAD v2:
9-98230987-G-A
gnomAD v3:
9-95468705-G-A
gnomAD v4:
9-95468705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95468705G>A , CM000671.2:g.95468705G>A | GRCh38 |
| NC_000009.11:g.98230987G>A , CM000671.1:g.98230987G>A | GRCh37 |
| NC_000009.10:g.97270808G>A | NCBI36 |
| NG_007664.1:g.53261C>T , LRG_515:g.53261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.2052+46C>T | ENSP00000518556.1:n.2052+46C>T | |
| ENST00000437951.6:c.2247+46C>T MANE Plus Clinical | ENSP00000389744.2:n.2247+46C>T | |
| ENST00000690194.1:c.*558+46C>T | ENSP00000509379.1:n.*558+46C>T | |
| ENST00000692981.1:c.1797+46C>T | ENSP00000510238.1:n.1797+46C>T | |
| ENST00000331920.11:c.2250+46C>T MANE Select | ENSP00000332353.6:n.2250+46C>T | |
| ENST00000331920.10:c.2250+46C>T | ENSP00000332353.6:n.2250+46C>T | |
| ENST00000375274.6:c.2247+46C>T | ENSP00000364423.2:n.2247+46C>T | |
| ENST00000375290.6:c.2019+46C>T | ENSP00000364439.2:n.2019+46C>T | |
| ENST00000418258.5:c.1797+46C>T | ENSP00000396135.1:n.1797+46C>T | |
| ENST00000421141.5:c.1797+46C>T | ENSP00000399981.1:n.1797+46C>T | |
| ENST00000429896.6:c.1797+46C>T | ENSP00000414823.2:n.1797+46C>T | |
| ENST00000430669.6:c.2052+46C>T | ENSP00000410287.2:n.2052+46C>T | |
| ENST00000437951.5:c.2052+46C>T | ENSP00000389744.1:n.2052+46C>T | |
| ENST00000549678.1:n.439+46C>T | ||
| NM_000264.3:c.2250+46C>T , LRG_515t1:c.2250+46C>T | NP_000255.2:n.2250+46C>T | |
| NM_001083602.1:c.2052+46C>T , LRG_515t2:c.2052+46C>T | NP_001077071.1:n.2052+46C>T | |
| NM_001083603.1:c.2247+46C>T | NP_001077072.1:n.2247+46C>T | |
| NM_001083604.1:c.1797+46C>T | NP_001077073.1:n.1797+46C>T | |
| NM_001083605.1:c.1797+46C>T | NP_001077074.1:n.1797+46C>T | |
| NM_001083606.1:c.1797+46C>T | NP_001077075.1:n.1797+46C>T | |
| NM_001083607.1:c.1797+46C>T | NP_001077076.1:n.1797+46C>T | |
| NR_038982.1:n.643G>A | ||
| XM_005252102.2:c.1797+46C>T | XP_005252159.1:n.1797+46C>T | |
| XM_011518868.1:c.2094+46C>T | XP_011517170.1:n.2094+46C>T | |
| XM_011518869.1:c.1797+46C>T | XP_011517171.1:n.1797+46C>T | |
| XM_011518870.1:c.1797+46C>T | XP_011517172.1:n.1797+46C>T | |
| XM_011518871.1:c.1797+46C>T | XP_011517173.1:n.1797+46C>T | |
| XM_011518872.1:c.1797+46C>T | XP_011517174.1:n.1797+46C>T | |
| XM_011518873.1:c.1410+46C>T | XP_011517175.1:n.1410+46C>T | |
| XM_011518874.1:c.2250+46C>T | XP_011517176.1:n.2250+46C>T | |
| NM_000264.4:c.2250+46C>T | NP_000255.2:n.2250+46C>T | |
| NM_001083602.2:c.2052+46C>T | NP_001077071.1:n.2052+46C>T | |
| NM_001083603.2:c.2247+46C>T | NP_001077072.1:n.2247+46C>T | |
| NM_001083604.2:c.1797+46C>T | NP_001077073.1:n.1797+46C>T | |
| NM_001083605.2:c.1797+46C>T | NP_001077074.1:n.1797+46C>T | |
| NM_001083606.2:c.1797+46C>T | NP_001077075.1:n.1797+46C>T | |
| NM_001083607.2:c.1797+46C>T | NP_001077076.1:n.1797+46C>T | |
| NM_001354918.1:c.2094+46C>T | NP_001341847.1:n.2094+46C>T | |
| NR_149061.1:n.2438+46C>T | ||
| NM_000264.5:c.2250+46C>T MANE Select | NP_000255.2:n.2250+46C>T | |
| NM_001083606.3:c.1797+46C>T | NP_001077075.1:n.1797+46C>T | |
| NM_001354918.2:c.2094+46C>T | NP_001341847.1:n.2094+46C>T | |
| NR_149061.2:n.3155+46C>T | ||
| NM_001083602.3:c.2052+46C>T | NP_001077071.1:n.2052+46C>T | |
| NM_001083603.3:c.2247+46C>T MANE Plus Clinical | NP_001077072.1:n.2247+46C>T | |
| NM_001083604.3:c.1797+46C>T | NP_001077073.1:n.1797+46C>T | |
| NM_001083605.3:c.1797+46C>T | NP_001077074.1:n.1797+46C>T | |
| NM_001083607.3:c.1797+46C>T | NP_001077076.1:n.1797+46C>T |