Linked Data
ClinVar Variation Id:
676
ClinVar RCV Id:
RCV000000711
dbSNP Id:
rs121918157
gnomAD v3:
2-127428895-C-G
gnomAD v4:
2-127428895-C-G
PubMed:
PMID:8128429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428895C>G , CM000664.2:g.127428895C>G | GRCh38 |
| NC_000002.11:g.128186471C>G , CM000664.1:g.128186471C>G | GRCh37 |
| NC_000002.10:g.127902941C>G | NCBI36 |
| NG_016323.1:g.15476C>G , LRG_599:g.15476C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.1335C>G MANE Select | ENSP00000234071.4:p.Ile445Met | |
| ENST00000234071.7:c.1335C>G | ENSP00000234071.3:p.Ile445Met | |
| ENST00000402125.2:c.659C>G | ||
| ENST00000409048.1:c.1437C>G | ENSP00000386679.1:p.Ile479Met | |
| NM_000312.3:c.1335C>G , LRG_599t1:c.1335C>G | NP_000303.1:p.Ile445Met | |
| XM_005263715.3:c.1518C>G | XP_005263772.1:p.Ile506Met | |
| XM_005263716.3:c.1500C>G | XP_005263773.1:p.Ile500Met | |
| XM_005263717.3:c.1398C>G | XP_005263774.1:p.Ile466Met | |
| XR_923313.1:n.1332-631G>C | ||
| XM_005263717.4:c.1398C>G | XP_005263774.1:p.Ile466Met | |
| XM_017004505.1:c.1578C>G | XP_016859994.1:p.Ile526Met | |
| XM_024453002.1:c.1680C>G | XP_024308770.1:p.Ile560Met | |
| XM_024453003.1:c.1620C>G | XP_024308771.1:p.Ile540Met | |
| XM_024453004.1:c.1518C>G | XP_024308772.1:p.Ile506Met | |
| XM_024453005.1:c.1500C>G | XP_024308773.1:p.Ile500Met | |
| XM_024453006.1:c.1437C>G | XP_024308774.1:p.Ile479Met | |
| XR_001739705.1:n.3607-631G>C | ||
| XR_923313.2:n.4043-631G>C | ||
| NM_000312.4:c.1335C>G MANE Select | NP_000303.1:p.Ile445Met | |
| NM_001375602.1:c.1518C>G | NP_001362531.1:p.Ile506Met | |
| NM_001375603.1:c.1500C>G | NP_001362532.1:p.Ile500Met | |
| NM_001375604.1:c.1398C>G | NP_001362533.1:p.Ile466Met | |
| NM_001375605.1:c.1437C>G | NP_001362534.1:p.Ile479Met | |
| NM_001375606.1:c.1503C>G | NP_001362535.1:p.Ile501Met | |
| NM_001375607.1:c.1521C>G | NP_001362536.1:p.Ile507Met | |
| NM_001375608.1:c.1278C>G | NP_001362537.1:p.Ile426Met | |
| NM_001375609.1:c.1311C>G | NP_001362538.1:p.Ile437Met | |
| NM_001375610.1:c.1329C>G | NP_001362539.1:p.Ile443Met | |
| NM_001375611.1:c.1335C>G | NP_001362540.1:p.Ile445Met | |
| NM_001375613.1:c.1335C>G | NP_001362542.1:p.Ile445Met |