Linked Data
dbSNP Id:
rs771088315
ExAC:
1:159683661 G / A
gnomAD v2:
1-159683661-G-A
gnomAD v3:
1-159713871-G-A
gnomAD v4:
1-159713871-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159713871G>A , CM000663.2:g.159713871G>A | GRCh38 |
| NC_000001.10:g.159683661G>A , CM000663.1:g.159683661G>A | GRCh37 |
| NC_000001.9:g.157950285G>A | NCBI36 |
| NG_013007.1:g.5719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255030.9:c.329C>T MANE Select | ENSP00000255030.5:p.Ala110Val | |
| ENST00000368110.1:c.193+136C>T | ENSP00000357091.1:n.193+136C>T | |
| ENST00000368111.5:c.193+136C>T | ENSP00000357092.1:n.193+136C>T | |
| ENST00000368112.5:c.197+132C>T | ENSP00000357093.1:n.197+132C>T | |
| ENST00000437342.1:c.-206C>T | ENSP00000402788.1:n.-206C>T | |
| ENST00000489317.1:n.74+136C>T | ||
| NM_000567.2:c.329C>T | NP_000558.2:p.Ala110Val | |
| XM_011509207.1:c.329C>T | XP_011507509.1:p.Ala110Val | |
| NM_001329057.1:c.329C>T | NP_001315986.1:p.Ala110Val | |
| NM_001329058.1:c.197+132C>T | NP_001315987.1:n.197+132C>T | |
| NM_000567.3:c.329C>T MANE Select | NP_000558.2:p.Ala110Val | |
| NM_001329057.2:c.329C>T | NP_001315986.1:p.Ala110Val | |
| NM_001329058.2:c.197+132C>T | NP_001315987.1:n.197+132C>T | |
| NM_001382703.1:c.193+136C>T | NP_001369632.1:n.193+136C>T |