Linked Data
dbSNP Id:
rs755869443
ExAC:
12:80752502 T / C
gnomAD v2:
12-80752502-T-C
gnomAD v3:
12-80358722-T-C
gnomAD v4:
12-80358722-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80358722T>C , CM000674.2:g.80358722T>C | GRCh38 |
| NC_000012.11:g.80752502T>C , CM000674.1:g.80752502T>C | GRCh37 |
| NC_000012.10:g.79276633T>C | NCBI36 |
| NG_033008.1:g.154270T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.6173T>C MANE Select | ENSP00000447211.2:p.Met2058Thr | |
| ENST00000642294.1:c.113T>C | ENSP00000493572.1:p.Met38Thr | |
| ENST00000646859.1:c.6038T>C | ENSP00000496036.1:p.Met2013Thr | |
| ENST00000298820.7:c.1474T>C | ||
| ENST00000458043.6:c.6146T>C | ENSP00000400895.2:p.Met2049Thr | |
| ENST00000546620.5:n.429T>C | ||
| ENST00000547103.5:c.6110T>C | ENSP00000447211.1:p.Met2037Thr | |
| ENST00000550182.2:c.197T>C | ENSP00000449641.1:p.Met66Thr | |
| ENST00000551340.5:c.301T>C | ||
| NM_173591.3:c.6146T>C | NP_775862.3:p.Met2049Thr | |
| XM_005268802.2:c.6197T>C | XP_005268859.1:p.Met2066Thr | |
| XM_011538191.1:c.6197T>C | XP_011536493.1:p.Met2066Thr | |
| XM_011538192.1:c.6044T>C | XP_011536494.1:p.Met2015Thr | |
| XM_011538193.1:c.5831T>C | XP_011536495.1:p.Met1944Thr | |
| XM_005268802.3:c.6197T>C | XP_005268859.1:p.Met2066Thr | |
| XM_011538192.2:c.6044T>C | XP_011536494.1:p.Met2015Thr | |
| NM_001368062.1:c.6011T>C | NP_001354991.1:p.Met2004Thr | |
| NM_001368062.3:c.6038T>C | NP_001354991.2:p.Met2013Thr | |
| NM_001378609.3:c.6173T>C MANE Select | NP_001365538.2:p.Met2058Thr | |
| NM_001378610.3:c.6173T>C | NP_001365539.2:p.Met2058Thr | |
| NM_173591.7:c.6173T>C | NP_775862.4:p.Met2058Thr |