Linked Data
dbSNP Id:
rs2347867
gnomAD v2:
6-152229850-G-A
gnomAD v3:
6-151908715-G-A
gnomAD v4:
6-151908715-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151908715G>A , CM000668.2:g.151908715G>A | GRCh38 |
| NC_000006.11:g.152229850G>A , CM000668.1:g.152229850G>A | GRCh37 |
| NC_000006.10:g.152271543G>A | NCBI36 |
| NG_008493.1:g.223220G>A | |
| NG_008493.2:g.257025G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206249.8:c.760+27944G>A MANE Select | ENSP00000206249.3:n.760+27944G>A | |
| ENST00000206249.7:c.760+27944G>A | ENSP00000206249.3:n.760+27944G>A | |
| ENST00000338799.9:c.760+27944G>A | ENSP00000342630.5:n.760+27944G>A | |
| ENST00000406599.5:c.452+100351G>A | ENSP00000384064.1:n.452+100351G>A | |
| ENST00000415488.1:c.115+27944G>A | ENSP00000401995.1:n.115+27944G>A | |
| ENST00000427531.6:c.241+27944G>A | ENSP00000394721.2:n.241+27944G>A | |
| ENST00000440973.5:c.760+27944G>A | ENSP00000405330.1:n.760+27944G>A | |
| ENST00000443427.5:c.760+27944G>A | ENSP00000387500.1:n.760+27944G>A | |
| ENST00000456483.3:c.*110+27944G>A | ENSP00000415934.3:n.*110+27944G>A | |
| NM_000125.3:c.760+27944G>A | NP_000116.2:n.760+27944G>A | |
| NM_001122740.1:c.760+27944G>A | NP_001116212.1:n.760+27944G>A | |
| NM_001122741.1:c.760+27944G>A | NP_001116213.1:n.760+27944G>A | |
| NM_001122742.1:c.760+27944G>A | NP_001116214.1:n.760+27944G>A | |
| NM_001291230.1:c.766+27944G>A | NP_001278159.1:n.766+27944G>A | |
| NM_001291241.1:c.757+27947G>A | NP_001278170.1:n.757+27947G>A | |
| XM_006715374.2:c.760+27944G>A | XP_006715437.1:n.760+27944G>A | |
| XM_006715375.2:c.241+27944G>A | XP_006715438.1:n.241+27944G>A | |
| XM_011535543.1:c.760+27944G>A | XP_011533845.1:n.760+27944G>A | |
| XM_011535544.1:c.760+27944G>A | XP_011533846.1:n.760+27944G>A | |
| XM_011535545.1:c.760+27944G>A | XP_011533847.1:n.760+27944G>A | |
| XM_011535546.1:c.760+27944G>A | XP_011533848.1:n.760+27944G>A | |
| XM_011535547.1:c.760+27944G>A | XP_011533849.1:n.760+27944G>A | |
| XM_011535548.1:c.241+27944G>A | XP_011533850.1:n.241+27944G>A | |
| NM_001328100.1:c.241+27944G>A | NP_001315029.1:n.241+27944G>A | |
| XM_006715374.3:c.760+27944G>A | XP_006715437.1:n.760+27944G>A | |
| XM_006715375.3:c.241+27944G>A | XP_006715438.1:n.241+27944G>A | |
| XM_011535543.2:c.760+27944G>A | XP_011533845.1:n.760+27944G>A | |
| XM_011535544.2:c.760+27944G>A | XP_011533846.1:n.760+27944G>A | |
| XM_011535545.2:c.760+27944G>A | XP_011533847.1:n.760+27944G>A | |
| XM_011535547.2:c.760+27944G>A | XP_011533849.1:n.760+27944G>A | |
| XM_017010376.1:c.760+27944G>A | XP_016865865.1:n.760+27944G>A | |
| XM_017010377.1:c.760+27944G>A | XP_016865866.1:n.760+27944G>A | |
| XM_017010378.1:c.760+27944G>A | XP_016865867.1:n.760+27944G>A | |
| XM_017010379.1:c.760+27944G>A | XP_016865868.1:n.760+27944G>A | |
| XM_017010380.1:c.760+27944G>A | XP_016865869.1:n.760+27944G>A | |
| XM_017010381.1:c.760+27944G>A | XP_016865870.1:n.760+27944G>A | |
| XM_017010382.2:c.103+27944G>A | XP_016865871.1:n.103+27944G>A | |
| XR_001743223.2:n.1130+27944G>A | ||
| XR_002956266.1:n.1130+27944G>A | ||
| NM_000125.4:c.760+27944G>A MANE Select | NP_000116.2:n.760+27944G>A | |
| NM_001328100.2:c.241+27944G>A | NP_001315029.1:n.241+27944G>A | |
| NM_001122740.2:c.760+27944G>A | NP_001116212.1:n.760+27944G>A | |
| NM_001122741.2:c.760+27944G>A | NP_001116213.1:n.760+27944G>A | |
| NM_001122742.2:c.760+27944G>A | NP_001116214.1:n.760+27944G>A | |
| NM_001291230.2:c.766+27944G>A | NP_001278159.1:n.766+27944G>A | |
| NM_001291241.2:c.757+27947G>A | NP_001278170.1:n.757+27947G>A | |
| NM_001385568.1:c.760+27944G>A | NP_001372497.1:n.760+27944G>A | |
| NM_001385569.1:c.760+27944G>A | NP_001372498.1:n.760+27944G>A | |
| NM_001385570.1:c.760+27944G>A | NP_001372499.1:n.760+27944G>A | |
| NM_001385571.1:c.760+27944G>A | NP_001372500.1:n.760+27944G>A | |
| NM_001385572.1:c.760+27944G>A | NP_001372501.1:n.760+27944G>A |