Linked Data
dbSNP Id:
rs1227213802
gnomAD v2:
Y-21868783-A-G
gnomAD v3:
Y-19706897-A-G
gnomAD v4:
Y-19706897-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19706897A>G , CM000686.2:g.19706897A>G | GRCh38 |
| NC_000024.9:g.21868783A>G , CM000686.1:g.21868783A>G | GRCh37 |
| NC_000024.8:g.20328171A>G | NCBI36 |
| NG_032920.1:g.43043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.4000-34T>C MANE Select | ENSP00000322408.4:n.4000-34T>C | |
| ENST00000317961.8:c.4000-34T>C | ENSP00000322408.4:n.4000-34T>C | |
| ENST00000382806.6:c.3829-34T>C | ENSP00000372256.2:n.3829-34T>C | |
| ENST00000440077.5:c.3877-34T>C | ENSP00000398543.1:n.3877-34T>C | |
| ENST00000469599.6:n.2598-34T>C | ||
| ENST00000492117.1:n.3892-34T>C | ||
| ENST00000541639.5:c.4093-34T>C | ENSP00000444293.1:n.4093-34T>C | |
| NM_001146705.1:c.4093-34T>C | NP_001140177.1:n.4093-34T>C | |
| NM_001146706.1:c.3829-34T>C | NP_001140178.1:n.3829-34T>C | |
| NM_004653.4:c.4000-34T>C | NP_004644.2:n.4000-34T>C | |
| XM_005262560.1:c.3865-34T>C | XP_005262617.1:n.3865-34T>C | |
| XM_005262561.1:c.3769-34T>C | XP_005262618.1:n.3769-34T>C | |
| XM_011531468.1:c.3922-34T>C | XP_011529770.1:n.3922-34T>C | |
| XR_244571.2:n.4288-34T>C | ||
| XR_430568.2:n.4622-34T>C | ||
| XM_005262560.3:c.3865-34T>C | XP_005262617.1:n.3865-34T>C | |
| XM_005262561.3:c.3769-34T>C | XP_005262618.1:n.3769-34T>C | |
| XM_011531468.3:c.3922-34T>C | XP_011529770.1:n.3922-34T>C | |
| XM_024452495.1:c.1990-34T>C | XP_024308263.1:n.1990-34T>C | |
| XM_024452496.1:c.1756-34T>C | XP_024308264.1:n.1756-34T>C | |
| XR_001756009.2:n.4738-34T>C | ||
| XR_001756010.2:n.4738-34T>C | ||
| XR_001756011.2:n.4603-34T>C | ||
| XR_001756012.2:n.4751-34T>C | ||
| XR_001756013.2:n.4069-34T>C | ||
| XR_002958832.1:n.4170-34T>C | ||
| XR_002958834.1:n.4394-34T>C | ||
| XR_002958835.1:n.4277-34T>C | ||
| XR_002958836.1:n.4960-34T>C | ||
| XR_002958837.1:n.4767-34T>C | ||
| XR_244571.4:n.4287-34T>C | ||
| XR_430568.4:n.4621-34T>C | ||
| NM_001146706.2:c.3829-34T>C | NP_001140178.1:n.3829-34T>C | |
| NM_004653.5:c.4000-34T>C MANE Select | NP_004644.2:n.4000-34T>C | |
| NM_001146705.2:c.4093-34T>C | NP_001140177.1:n.4093-34T>C |