Linked Data
dbSNP Id:
rs1368390410
gnomAD v2:
19-1391140-C-T
gnomAD v4:
19-1391141-C-T
COSMIC:
COSM3989734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1391141C>T , CM000681.2:g.1391141C>T | GRCh38 |
| NC_000019.9:g.1391140C>T , CM000681.1:g.1391140C>T | GRCh37 |
| NC_000019.8:g.1342140C>T | NCBI36 |
| NG_008283.1:g.12258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.431C>T MANE Select | ENSP00000233627.9:p.Pro144Leu | |
| ENST00000233627.13:c.431C>T | ENSP00000233627.9:p.Pro144Leu | |
| ENST00000313408.11:c.431C>T | ENSP00000364262.5:p.Pro144Leu | |
| ENST00000414651.3:c.521C>T | ENSP00000406630.2:p.Pro174Leu | |
| ENST00000436115.6:n.2386C>T | ||
| ENST00000534853.5:c.*225C>T | ENSP00000442822.1:n.*225C>T | |
| ENST00000535382.1:n.683C>T | ||
| ENST00000538523.5:n.487C>T | ||
| ENST00000538662.5:n.526C>T | ||
| ENST00000538929.5:n.521C>T | ||
| ENST00000539480.5:c.431C>T | ENSP00000443273.1:p.Pro144Leu | |
| ENST00000540530.5:n.422C>T | ||
| ENST00000543289.5:n.989C>T | ||
| ENST00000545446.5:n.722C>T | ||
| ENST00000546172.7:c.*427C>T | ENSP00000467094.1:n.*427C>T | |
| ENST00000546283.5:c.431C>T | ENSP00000440348.1:p.Pro144Leu | |
| ENST00000618074.4:c.438C>T | ENSP00000477895.1:p.Ala146= | |
| ENST00000620479.4:c.435C>T | ENSP00000480984.1:p.Ala145= | |
| ENST00000622587.4:n.495C>T | ||
| NM_024407.4:c.431C>T | NP_077718.3:p.Pro144Leu | |
| XM_005259556.3:c.431C>T | XP_005259613.2:p.Pro144Leu | |
| NM_001363602.1:c.431C>T | NP_001350531.1:p.Pro144Leu | |
| XM_024451499.1:c.452C>T | XP_024307267.1:p.Pro151Leu | |
| NM_024407.5:c.431C>T MANE Select | NP_077718.3:p.Pro144Leu | |
| NM_001363602.2:c.431C>T | NP_001350531.1:p.Pro144Leu |