Linked Data
dbSNP Id:
rs7511970
gnomAD v2:
1-239883255-G-A
gnomAD v3:
1-239719955-G-A
gnomAD v4:
1-239719955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.239719955G>A , CM000663.2:g.239719955G>A | GRCh38 |
| NC_000001.10:g.239883255G>A , CM000663.1:g.239883255G>A | GRCh37 |
| NC_000001.9:g.237949878G>A | NCBI36 |
| NG_032046.1:g.95883G>A | |
| NG_032046.2:g.338026G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615928.5:c.-147+41667G>A | ENSP00000482377.1:n.-147+41667G>A | |
| ENST00000675184.1:c.-147+41667G>A | ENSP00000502349.1:n.-147+41667G>A | |
| ENST00000676153.1:c.-147+41667G>A MANE Select | ENSP00000502667.1:n.-147+41667G>A | |
| ENST00000676433.1:c.-147+41667G>A | ENSP00000502013.1:n.-147+41667G>A | |
| ENST00000255380.8:c.-147+41667G>A | ENSP00000255380.4:n.-147+41667G>A | |
| ENST00000448020.1:c.-147+301G>A | ENSP00000404764.1:n.-147+301G>A | |
| ENST00000468573.5:n.1141+1056G>A | ||
| ENST00000615928.4:c.-147+41667G>A | ENSP00000482377.1:n.-147+41667G>A | |
| NM_000740.2:c.-147+41667G>A | NP_000731.1:n.-147+41667G>A | |
| XM_005273032.2:c.-147+41667G>A | XP_005273089.1:n.-147+41667G>A | |
| XM_011544041.1:c.-147+41667G>A | XP_011542343.1:n.-147+41667G>A | |
| XM_011544042.1:c.-532+1056G>A | XP_011542344.1:n.-532+1056G>A | |
| XM_011544043.1:c.-376+1056G>A | XP_011542345.1:n.-376+1056G>A | |
| XM_011544044.1:c.-147+1056G>A | XP_011542346.1:n.-147+1056G>A | |
| XM_011544045.1:c.-376+41667G>A | XP_011542347.1:n.-376+41667G>A | |
| XM_011544046.1:c.-147+41667G>A | XP_011542348.1:n.-147+41667G>A | |
| XM_011544047.1:c.-20+41667G>A | XP_011542349.1:n.-20+41667G>A | |
| NM_000740.3:c.-147+41667G>A | NP_000731.1:n.-147+41667G>A | |
| NM_001347716.1:c.-376+41667G>A | NP_001334645.1:n.-376+41667G>A | |
| XM_005273032.3:c.-147+41667G>A | XP_005273089.1:n.-147+41667G>A | |
| XM_011544041.2:c.-147+41667G>A | XP_011542343.1:n.-147+41667G>A | |
| XM_011544043.2:c.-376+1056G>A | XP_011542345.1:n.-376+1056G>A | |
| XM_011544044.2:c.-147+1056G>A | XP_011542346.1:n.-147+1056G>A | |
| XM_011544046.2:c.-147+41667G>A | XP_011542348.1:n.-147+41667G>A | |
| XM_011544047.2:c.-20+41667G>A | XP_011542349.1:n.-20+41667G>A | |
| XM_017000152.2:c.-147+41667G>A | XP_016855641.1:n.-147+41667G>A | |
| XM_017000153.1:c.-147+41667G>A | XP_016855642.1:n.-147+41667G>A | |
| XM_017000154.1:c.-147+41667G>A | XP_016855643.1:n.-147+41667G>A | |
| XM_017000155.1:c.-147+1056G>A | XP_016855644.1:n.-147+1056G>A | |
| XM_017000156.1:c.-147+1056G>A | XP_016855645.1:n.-147+1056G>A | |
| XM_017000157.2:c.-147+41667G>A | XP_016855646.1:n.-147+41667G>A | |
| XM_017000158.1:c.-147+41667G>A | XP_016855647.1:n.-147+41667G>A | |
| XM_017000159.1:c.-20+41667G>A | XP_016855648.1:n.-20+41667G>A | |
| XM_017000160.2:c.-147+41667G>A | XP_016855649.1:n.-147+41667G>A | |
| XM_017000161.1:c.-147+1056G>A | XP_016855650.1:n.-147+1056G>A | |
| XM_017000162.1:c.-20+41667G>A | XP_016855651.1:n.-20+41667G>A | |
| NM_001347716.2:c.-376+41667G>A | NP_001334645.1:n.-376+41667G>A | |
| NM_001375978.1:c.-147+41667G>A MANE Select | NP_001362907.1:n.-147+41667G>A | |
| NM_001375979.1:c.-147+41667G>A | NP_001362908.1:n.-147+41667G>A | |
| NM_001375980.1:c.-147+41667G>A | NP_001362909.1:n.-147+41667G>A | |
| NM_001375981.1:c.-147+41667G>A | NP_001362910.1:n.-147+41667G>A | |
| NM_001375982.1:c.-147+41667G>A | NP_001362911.1:n.-147+41667G>A | |
| NM_001375983.1:c.-147+1056G>A | NP_001362912.1:n.-147+1056G>A | |
| NM_001375984.1:c.-147+1056G>A | NP_001362913.1:n.-147+1056G>A | |
| NM_001375985.1:c.-147+1056G>A | NP_001362914.1:n.-147+1056G>A | |
| NR_164748.1:n.1138+1056G>A | ||
| NM_000740.4:c.-147+41667G>A | NP_000731.1:n.-147+41667G>A |