Linked Data
dbSNP Id:
rs10456544
gnomAD v2:
6-45181694-T-A
gnomAD v3:
6-45213957-T-A
gnomAD v4:
6-45213957-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45213957T>A , CM000668.2:g.45213957T>A | GRCh38 |
| NC_000006.11:g.45181694T>A , CM000668.1:g.45181694T>A | GRCh37 |
| NC_000006.10:g.45289672T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371459.6:c.102-107951A>T MANE Select | ENSP00000360514.1:n.102-107951A>T | |
| ENST00000371459.5:c.102-107951A>T | ENSP00000360514.1:n.102-107951A>T | |
| ENST00000371460.5:c.134+107839A>T | ENSP00000360515.1:n.134+107839A>T | |
| ENST00000475057.5:c.102-107951A>T | ENSP00000436411.1:n.102-107951A>T | |
| NM_001261823.1:c.-264-107951A>T | NP_001248752.1:n.-264-107951A>T | |
| NM_003599.3:c.102-107951A>T | NP_003590.1:n.102-107951A>T | |
| NM_181356.2:c.134+107839A>T | NP_852001.1:n.134+107839A>T | |
| XM_011514949.1:c.134+107839A>T | XP_011513251.1:n.134+107839A>T | |
| XM_011514950.1:c.102-107951A>T | XP_011513252.1:n.102-107951A>T | |
| XM_011514951.1:c.102-107951A>T | XP_011513253.1:n.102-107951A>T | |
| XM_011514952.1:c.102-107951A>T | XP_011513254.1:n.102-107951A>T | |
| XM_011514953.1:c.102-107951A>T | XP_011513255.1:n.102-107951A>T | |
| XM_011514954.1:c.102-107951A>T | XP_011513256.1:n.102-107951A>T | |
| XM_011514955.1:c.134+107839A>T | XP_011513257.1:n.134+107839A>T | |
| XR_926319.1:n.185+107839A>T | ||
| XR_926320.1:n.185+107839A>T | ||
| XR_926321.1:n.185+107839A>T | ||
| NM_001350324.1:c.102-107951A>T | NP_001337253.1:n.102-107951A>T | |
| NM_001350325.1:c.102-107951A>T | NP_001337254.1:n.102-107951A>T | |
| NM_001350326.1:c.39-107951A>T | NP_001337255.1:n.39-107951A>T | |
| NM_001350327.1:c.-73+151244A>T | NP_001337256.1:n.-73+151244A>T | |
| NM_001350329.1:c.102-107951A>T | NP_001337258.1:n.102-107951A>T | |
| NR_146632.1:n.199-107951A>T | ||
| NR_146633.1:n.261-107951A>T | ||
| NR_146634.1:n.219-107951A>T | ||
| NR_146635.1:n.117-107951A>T | ||
| XM_011514949.3:c.134+107839A>T | XP_011513251.1:n.134+107839A>T | |
| XM_011514951.3:c.102-107951A>T | XP_011513253.1:n.102-107951A>T | |
| XM_011514952.2:c.102-107951A>T | XP_011513254.1:n.102-107951A>T | |
| XM_011514953.3:c.102-107951A>T | XP_011513255.1:n.102-107951A>T | |
| XM_011514954.3:c.102-107951A>T | XP_011513256.1:n.102-107951A>T | |
| XM_017011369.2:c.134+107839A>T | XP_016866858.1:n.134+107839A>T | |
| XM_017011370.1:c.134+107839A>T | XP_016866859.1:n.134+107839A>T | |
| XM_017011371.1:c.102-107951A>T | XP_016866860.1:n.102-107951A>T | |
| XM_024446572.1:c.102-107951A>T | XP_024302340.1:n.102-107951A>T | |
| XR_001743685.1:n.185+107839A>T | ||
| XR_001743688.1:n.185+107839A>T | ||
| XR_001743691.1:n.386-107951A>T | ||
| XR_001743692.1:n.386-107951A>T | ||
| XR_002956310.1:n.386-107951A>T | ||
| XR_926319.3:n.185+107839A>T | ||
| NM_003599.4:c.102-107951A>T MANE Select | NP_003590.1:n.102-107951A>T | |
| NM_001261823.2:c.-264-107951A>T | NP_001248752.1:n.-264-107951A>T | |
| NM_001350324.2:c.102-107951A>T | NP_001337253.1:n.102-107951A>T | |
| NM_001350325.2:c.102-107951A>T | NP_001337254.1:n.102-107951A>T | |
| NM_001350326.2:c.39-107951A>T | NP_001337255.1:n.39-107951A>T | |
| NM_001350327.2:c.-73+151244A>T | NP_001337256.1:n.-73+151244A>T | |
| NM_001350329.2:c.102-107951A>T | NP_001337258.1:n.102-107951A>T | |
| NM_181356.3:c.134+107839A>T | NP_852001.1:n.134+107839A>T | |
| NR_146632.2:n.269-107951A>T | ||
| NR_146634.2:n.261-107951A>T | ||
| NR_146635.2:n.261-107951A>T |