Linked Data
dbSNP Id:
rs11169571
gnomAD v2:
12-51213765-T-C
gnomAD v3:
12-50819982-T-C
gnomAD v4:
12-50819982-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50819982T>C , CM000674.2:g.50819982T>C | GRCh38 |
| NC_000012.11:g.51213765T>C , CM000674.1:g.51213765T>C | GRCh37 |
| NC_000012.10:g.49500032T>C | NCBI36 |
| NG_027673.1:g.60977T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262053.8:c.*203T>C MANE Select | ENSP00000262053.3:n.*203T>C | |
| ENST00000262053.7:c.*203T>C | ENSP00000262053.3:n.*203T>C | |
| ENST00000551831.5:c.*616T>C | ENSP00000448987.1:n.*616T>C | |
| NM_005171.4:c.*203T>C | NP_005162.1:n.*203T>C | |
| XM_011538386.1:c.*203T>C | XP_011536688.1:n.*203T>C | |
| XM_011538387.1:c.*203T>C | XP_011536689.1:n.*203T>C | |
| XM_011538388.1:c.*203T>C | XP_011536690.1:n.*203T>C | |
| XM_011538386.2:c.*203T>C | XP_011536688.1:n.*203T>C | |
| XM_011538387.2:c.*203T>C | XP_011536689.1:n.*203T>C | |
| XM_011538388.2:c.*203T>C | XP_011536690.1:n.*203T>C | |
| XM_017019331.1:c.*203T>C | XP_016874820.1:n.*203T>C | |
| XM_017019332.1:c.*203T>C | XP_016874821.1:n.*203T>C | |
| XM_017019333.1:c.*203T>C | XP_016874822.1:n.*203T>C | |
| XM_017019334.1:c.*203T>C | XP_016874823.1:n.*203T>C | |
| XM_017019335.1:c.*203T>C | XP_016874824.1:n.*203T>C | |
| XM_017019336.1:c.*203T>C | XP_016874825.1:n.*203T>C | |
| NM_005171.5:c.*203T>C MANE Select | NP_005162.1:n.*203T>C |