Linked Data
dbSNP Id:
rs778184534
ExAC:
11:8111668 T / C
gnomAD v2:
11-8111668-T-C
gnomAD v4:
11-8090121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090121T>C , CM000673.2:g.8090121T>C | GRCh38 |
| NC_000011.9:g.8111668T>C , CM000673.1:g.8111668T>C | GRCh37 |
| NC_000011.8:g.8068244T>C | NCBI36 |
| NG_029912.1:g.56489T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.143T>C MANE Select | ENSP00000299506.3:p.Val48Ala | |
| ENST00000299506.2:c.143T>C | ENSP00000299506.2:p.Val48Ala | |
| ENST00000305253.8:c.308T>C | ENSP00000305426.4:p.Val103Ala | |
| ENST00000534099.5:c.161T>C | ENSP00000434400.1:p.Val54Ala | |
| NM_003320.4:c.308T>C | NP_003311.2:p.Val103Ala | |
| NM_177972.2:c.143T>C | NP_813977.1:p.Val48Ala | |
| XM_005253109.2:c.269T>C | XP_005253166.1:p.Val90Ala | |
| XM_011520344.1:c.179T>C | XP_011518646.1:p.Val60Ala | |
| XM_005253109.3:c.269T>C | XP_005253166.1:p.Val90Ala | |
| XM_011520344.2:c.179T>C | XP_011518646.1:p.Val60Ala | |
| NM_177972.3:c.143T>C MANE Select | NP_813977.1:p.Val48Ala | |
| NM_003320.5:c.308T>C | NP_003311.2:p.Val103Ala |