Linked Data
dbSNP Id:
rs750730381
ExAC:
16:28856279 G / A
gnomAD v2:
16-28856279-G-A
gnomAD v3:
16-28844958-G-A
gnomAD v4:
16-28844958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844958G>A , CM000678.2:g.28844958G>A | GRCh38 |
| NC_000016.9:g.28856279G>A , CM000678.1:g.28856279G>A | GRCh37 |
| NC_000016.8:g.28763780G>A | NCBI36 |
| NG_008964.1:g.6451C>T | |
| NG_029706.2:g.3359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.512C>T MANE Select | ENSP00000322439.3:p.Ala171Val | |
| ENST00000313511.7:c.512C>T | ENSP00000322439.3:p.Ala171Val | |
| ENST00000561644.1:n.50C>T | ||
| ENST00000565012.1:c.*39C>T | ENSP00000455007.1:n.*39C>T | |
| NM_003321.4:c.512C>T | NP_003312.3:p.Ala171Val | |
| XM_011545928.1:c.512C>T | XP_011544230.1:p.Ala171Val | |
| NM_001365360.1:c.512C>T | NP_001352289.1:p.Ala171Val | |
| NM_003321.5:c.512C>T MANE Select | NP_003312.3:p.Ala171Val | |
| NM_001365360.2:c.512C>T | NP_001352289.1:p.Ala171Val |