Linked Data
dbSNP Id:
rs745476175
ExAC:
11:128680618 T / C
gnomAD v2:
11-128680618-T-C
gnomAD v4:
11-128810723-T-C
COSMIC:
COSM94323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810723T>C , CM000673.2:g.128810723T>C | GRCh38 |
| NC_000011.9:g.128680618T>C , CM000673.1:g.128680618T>C | GRCh37 |
| NC_000011.8:g.128185828T>C | NCBI36 |
| NG_032912.1:g.129189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1115T>C | ENSP00000513017.1:p.Ile372Thr | |
| ENST00000527786.7:c.1094T>C MANE Select | ENSP00000433488.2:p.Ile365Thr | |
| ENST00000281428.12:c.896T>C | ENSP00000281428.8:p.Ile299Thr | |
| ENST00000344954.10:c.515T>C | ENSP00000339627.7:p.Ile172Thr | |
| ENST00000429175.7:c.*1016T>C | ENSP00000399985.3:n.*1016T>C | |
| ENST00000527786.6:c.1094T>C | ENSP00000433488.2:p.Ile365Thr | |
| ENST00000528790.1:n.3677T>C | ||
| ENST00000534087.3:c.995T>C | ENSP00000432950.1:p.Ile332Thr | |
| ENST00000608303.5:c.*486T>C | ENSP00000477262.1:n.*486T>C | |
| NM_001167681.2:c.995T>C | NP_001161153.1:p.Ile332Thr | |
| NM_001271010.1:c.896T>C | NP_001257939.1:p.Ile299Thr | |
| NM_001271012.1:c.515T>C | NP_001257941.1:p.Ile172Thr | |
| NM_002017.4:c.1094T>C | NP_002008.2:p.Ile365Thr | |
| XM_011542701.1:c.995T>C | XP_011541003.1:p.Ile332Thr | |
| XM_011542702.1:c.968T>C | XP_011541004.1:p.Ile323Thr | |
| XM_011542701.2:c.995T>C | XP_011541003.1:p.Ile332Thr | |
| XM_017017405.1:c.995T>C | XP_016872894.1:p.Ile332Thr | |
| XM_017017406.1:c.995T>C | XP_016872895.1:p.Ile332Thr | |
| NM_002017.5:c.1094T>C MANE Select | NP_002008.2:p.Ile365Thr | |
| NM_001167681.3:c.995T>C | NP_001161153.1:p.Ile332Thr | |
| NM_001271010.2:c.896T>C | NP_001257939.1:p.Ile299Thr | |
| NM_001271012.2:c.515T>C | NP_001257941.1:p.Ile172Thr |