Linked Data
dbSNP Id:
rs758984878
ExAC:
7:65426047 G / A
gnomAD v2:
7-65426047-G-A
gnomAD v3:
7-65961060-G-A
gnomAD v4:
7-65961060-G-A
COSMIC:
COSM1091312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961060G>A , CM000669.2:g.65961060G>A | GRCh38 |
| NC_000007.13:g.65426047G>A , CM000669.1:g.65426047G>A | GRCh37 |
| NC_000007.12:g.65063482G>A | NCBI36 |
| NG_016197.1:g.26255C>T | |
| NG_051954.1:g.92962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1793C>T MANE Select | ENSP00000302728.4:p.Pro598Leu | |
| ENST00000304895.8:c.1793C>T | ENSP00000302728.4:p.Pro598Leu | |
| ENST00000421103.5:c.1355C>T | ENSP00000391390.1:p.Pro452Leu | |
| ENST00000430730.5:c.*1060C>T | ENSP00000411859.1:n.*1060C>T | |
| ENST00000447929.5:c.*1173C>T | ENSP00000411262.1:n.*1173C>T | |
| ENST00000466883.5:n.2183C>T | ||
| NM_000181.3:c.1793C>T | NP_000172.2:p.Pro598Leu | |
| NM_001284290.1:c.1355C>T | NP_001271219.1:p.Pro452Leu | |
| NM_001293104.1:c.1223C>T | NP_001280033.1:p.Pro408Leu | |
| NM_001293105.1:c.1136C>T | NP_001280034.1:p.Pro379Leu | |
| NR_120531.1:n.1839C>T | ||
| XM_005250297.3:c.1640C>T | XP_005250354.1:p.Pro547Leu | |
| XM_011516113.1:c.1292C>T | XP_011514415.1:p.Pro431Leu | |
| XM_011516114.1:c.1121C>T | XP_011514416.1:p.Pro374Leu | |
| XM_005250297.4:c.1640C>T | XP_005250354.1:p.Pro547Leu | |
| XM_011516114.2:c.1121C>T | XP_011514416.1:p.Pro374Leu | |
| XM_017012091.1:c.1139C>T | XP_016867580.1:p.Pro380Leu | |
| XM_017012092.1:c.1070C>T | XP_016867581.1:p.Pro357Leu | |
| XM_017012093.2:c.968C>T | XP_016867582.1:p.Pro323Leu | |
| XR_001744658.2:n.1600C>T | ||
| XR_001744659.2:n.1713C>T | ||
| XR_001744660.2:n.1645C>T | ||
| XR_001744661.2:n.1560C>T | ||
| XR_927461.3:n.1798C>T | ||
| NM_000181.4:c.1793C>T MANE Select | NP_000172.2:p.Pro598Leu | |
| NM_001284290.2:c.1355C>T | NP_001271219.1:p.Pro452Leu | |
| NM_001293104.2:c.1223C>T | NP_001280033.1:p.Pro408Leu | |
| NM_001293105.2:c.1136C>T | NP_001280034.1:p.Pro379Leu | |
| NR_120531.2:n.1738C>T |