Linked Data
dbSNP Id:
rs759120733
ExAC:
2:128185887 G / A
gnomAD v2:
2-128185887-G-A
gnomAD v3:
2-127428311-G-A
gnomAD v4:
2-127428311-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428311G>A , CM000664.2:g.127428311G>A | GRCh38 |
| NC_000002.11:g.128185887G>A , CM000664.1:g.128185887G>A | GRCh37 |
| NC_000002.10:g.127902357G>A | NCBI36 |
| NG_016323.1:g.14892G>A , LRG_599:g.14892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.797-46G>A MANE Select | ENSP00000234071.4:n.797-46G>A | |
| ENST00000234071.7:c.797-46G>A | ENSP00000234071.3:n.797-46G>A | |
| ENST00000402125.2:c.121-46G>A | ||
| ENST00000409048.1:c.899-46G>A | ENSP00000386679.1:n.899-46G>A | |
| NM_000312.3:c.797-46G>A , LRG_599t1:c.797-46G>A | NP_000303.1:n.797-46G>A | |
| XM_005263715.3:c.980-46G>A | XP_005263772.1:n.980-46G>A | |
| XM_005263716.3:c.962-46G>A | XP_005263773.1:n.962-46G>A | |
| XM_005263717.3:c.860-46G>A | XP_005263774.1:n.860-46G>A | |
| XR_923313.1:n.1332-47C>T | ||
| XM_005263717.4:c.860-46G>A | XP_005263774.1:n.860-46G>A | |
| XM_017004505.1:c.1040-46G>A | XP_016859994.1:n.1040-46G>A | |
| XM_024453002.1:c.1142-46G>A | XP_024308770.1:n.1142-46G>A | |
| XM_024453003.1:c.1082-46G>A | XP_024308771.1:n.1082-46G>A | |
| XM_024453004.1:c.980-46G>A | XP_024308772.1:n.980-46G>A | |
| XM_024453005.1:c.962-46G>A | XP_024308773.1:n.962-46G>A | |
| XM_024453006.1:c.899-46G>A | XP_024308774.1:n.899-46G>A | |
| XR_001739705.1:n.3607-47C>T | ||
| XR_923313.2:n.4043-47C>T | ||
| NM_000312.4:c.797-46G>A MANE Select | NP_000303.1:n.797-46G>A | |
| NM_001375602.1:c.980-46G>A | NP_001362531.1:n.980-46G>A | |
| NM_001375603.1:c.962-46G>A | NP_001362532.1:n.962-46G>A | |
| NM_001375604.1:c.860-46G>A | NP_001362533.1:n.860-46G>A | |
| NM_001375605.1:c.899-46G>A | NP_001362534.1:n.899-46G>A | |
| NM_001375606.1:c.965-46G>A | NP_001362535.1:n.965-46G>A | |
| NM_001375607.1:c.983-46G>A | NP_001362536.1:n.983-46G>A | |
| NM_001375608.1:c.740-46G>A | NP_001362537.1:n.740-46G>A | |
| NM_001375609.1:c.773-46G>A | NP_001362538.1:n.773-46G>A | |
| NM_001375610.1:c.791-46G>A | NP_001362539.1:n.791-46G>A | |
| NM_001375611.1:c.797-46G>A | NP_001362540.1:n.797-46G>A | |
| NM_001375613.1:c.797-46G>A | NP_001362542.1:n.797-46G>A |