Linked Data
ClinVar Variation Id:
579043
ClinVar RCV Id:
RCV000702225
dbSNP Id:
rs1558718572
gnomAD v4:
2-127428802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428802G>A , CM000664.2:g.127428802G>A | GRCh38 |
| NC_000002.11:g.128186378G>A , CM000664.1:g.128186378G>A | GRCh37 |
| NC_000002.10:g.127902848G>A | NCBI36 |
| NG_016323.1:g.15383G>A , LRG_599:g.15383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1242G>A MANE Select | ENSP00000234071.4:p.Trp414Ter | |
| ENST00000234071.7:c.1242G>A | ENSP00000234071.3:p.Trp414Ter | |
| ENST00000402125.2:c.566G>A | ||
| ENST00000409048.1:c.1344G>A | ENSP00000386679.1:p.Trp448Ter | |
| NM_000312.3:c.1242G>A , LRG_599t1:c.1242G>A | NP_000303.1:p.Trp414Ter | |
| XM_005263715.3:c.1425G>A | XP_005263772.1:p.Trp475Ter | |
| XM_005263716.3:c.1407G>A | XP_005263773.1:p.Trp469Ter | |
| XM_005263717.3:c.1305G>A | XP_005263774.1:p.Trp435Ter | |
| XR_923313.1:n.1332-538C>T | ||
| XM_005263717.4:c.1305G>A | XP_005263774.1:p.Trp435Ter | |
| XM_017004505.1:c.1485G>A | XP_016859994.1:p.Trp495Ter | |
| XM_024453002.1:c.1587G>A | XP_024308770.1:p.Trp529Ter | |
| XM_024453003.1:c.1527G>A | XP_024308771.1:p.Trp509Ter | |
| XM_024453004.1:c.1425G>A | XP_024308772.1:p.Trp475Ter | |
| XM_024453005.1:c.1407G>A | XP_024308773.1:p.Trp469Ter | |
| XM_024453006.1:c.1344G>A | XP_024308774.1:p.Trp448Ter | |
| XR_001739705.1:n.3607-538C>T | ||
| XR_923313.2:n.4043-538C>T | ||
| NM_000312.4:c.1242G>A MANE Select | NP_000303.1:p.Trp414Ter | |
| NM_001375602.1:c.1425G>A | NP_001362531.1:p.Trp475Ter | |
| NM_001375603.1:c.1407G>A | NP_001362532.1:p.Trp469Ter | |
| NM_001375604.1:c.1305G>A | NP_001362533.1:p.Trp435Ter | |
| NM_001375605.1:c.1344G>A | NP_001362534.1:p.Trp448Ter | |
| NM_001375606.1:c.1410G>A | NP_001362535.1:p.Trp470Ter | |
| NM_001375607.1:c.1428G>A | NP_001362536.1:p.Trp476Ter | |
| NM_001375608.1:c.1185G>A | NP_001362537.1:p.Trp395Ter | |
| NM_001375609.1:c.1218G>A | NP_001362538.1:p.Trp406Ter | |
| NM_001375610.1:c.1236G>A | NP_001362539.1:p.Trp412Ter | |
| NM_001375611.1:c.1242G>A | NP_001362540.1:p.Trp414Ter | |
| NM_001375613.1:c.1242G>A | NP_001362542.1:p.Trp414Ter |