Linked Data
dbSNP Id:
rs761234398
ExAC:
1:159683392 G / A
gnomAD v2:
1-159683392-G-A
gnomAD v4:
1-159713602-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159713602G>A , CM000663.2:g.159713602G>A | GRCh38 |
| NC_000001.10:g.159683392G>A , CM000663.1:g.159683392G>A | GRCh37 |
| NC_000001.9:g.157950016G>A | NCBI36 |
| NG_013007.1:g.5988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255030.9:c.598C>T MANE Select | ENSP00000255030.5:p.Pro200Ser | |
| ENST00000368110.1:c.232C>T | ENSP00000357091.1:p.Pro78Ser | |
| ENST00000368111.5:c.232C>T | ENSP00000357092.1:p.Pro78Ser | |
| ENST00000368112.5:c.199C>T | ENSP00000357093.1:p.Pro67Ser | |
| ENST00000437342.1:c.64C>T | ENSP00000402788.1:p.Pro22Ser | |
| ENST00000473196.1:n.166C>T | ||
| ENST00000489317.1:n.74+405C>T | ||
| NM_000567.2:c.598C>T | NP_000558.2:p.Pro200Ser | |
| XM_011509207.1:c.598C>T | XP_011507509.1:p.Pro200Ser | |
| NM_001329057.1:c.598C>T | NP_001315986.1:p.Pro200Ser | |
| NM_001329058.1:c.199C>T | NP_001315987.1:p.Pro67Ser | |
| NM_000567.3:c.598C>T MANE Select | NP_000558.2:p.Pro200Ser | |
| NM_001329057.2:c.598C>T | NP_001315986.1:p.Pro200Ser | |
| NM_001329058.2:c.199C>T | NP_001315987.1:p.Pro67Ser | |
| NM_001382703.1:c.232C>T | NP_001369632.1:p.Pro78Ser |