Linked Data
dbSNP Id:
rs1467791179
gnomAD v2:
12-109959267-C-T
gnomAD v3:
12-109521462-C-T
gnomAD v4:
12-109521462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109521462C>T , CM000674.2:g.109521462C>T | GRCh38 |
| NC_000012.11:g.109959267C>T , CM000674.1:g.109959267C>T | GRCh37 |
| NC_000012.10:g.108443650C>T | NCBI36 |
| NG_033898.1:g.48840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342494.8:c.2275C>T MANE Select | ENSP00000340596.3:p.Leu759= | |
| ENST00000342494.7:c.2275C>T | ENSP00000340596.3:p.Leu759= | |
| ENST00000434735.6:c.2275C>T | ENSP00000391529.2:p.Leu759= | |
| ENST00000449510.6:c.*245C>T | ENSP00000395802.2:n.*245C>T | |
| ENST00000538070.1:n.1791C>T | ||
| ENST00000539584.5:n.1799C>T | ||
| ENST00000539599.5:c.2275C>T | ENSP00000443131.1:p.Leu759= | |
| NM_130466.3:c.2275C>T | NP_569733.2:p.Leu759= | |
| NM_183415.2:c.2275C>T | NP_904324.1:p.Leu759= | |
| XM_005253987.1:c.2275C>T | XP_005254044.1:p.Leu759= | |
| XM_006719681.2:c.2275C>T | XP_006719744.1:p.Leu759= | |
| XM_006719682.1:c.2275C>T | XP_006719745.1:p.Leu759= | |
| XM_011538959.1:c.2275C>T | XP_011537261.1:p.Leu759= | |
| XM_011538960.1:c.2275C>T | XP_011537262.1:p.Leu759= | |
| XM_011538961.1:c.2275C>T | XP_011537263.1:p.Leu759= | |
| XM_011538962.1:c.2275C>T | XP_011537264.1:p.Leu759= | |
| XR_429118.2:n.3102C>T | ||
| XM_005253987.2:c.2275C>T | XP_005254044.1:p.Leu759= | |
| XM_006719681.3:c.2275C>T | XP_006719744.1:p.Leu759= | |
| XM_006719682.2:c.2275C>T | XP_006719745.1:p.Leu759= | |
| XM_011538959.2:c.2275C>T | XP_011537261.1:p.Leu759= | |
| XM_017020195.1:c.1696C>T | XP_016875684.1:p.Leu566= | |
| XM_024449269.1:c.1696C>T | XP_024305037.1:p.Leu566= | |
| XR_429118.3:n.3102C>T | ||
| XR_429119.4:n.3291C>T | ||
| NM_130466.4:c.2275C>T MANE Select | NP_569733.2:p.Leu759= | |
| NM_183415.3:c.2275C>T | NP_904324.1:p.Leu759= |