Linked Data
dbSNP Id:
rs764759660
ExAC:
2:38302512 G / A
gnomAD v2:
2-38302512-G-A
gnomAD v4:
2-38075369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075369G>A , CM000664.2:g.38075369G>A | GRCh38 |
| NC_000002.11:g.38302512G>A , CM000664.1:g.38302512G>A | GRCh37 |
| NC_000002.10:g.38156016G>A | NCBI36 |
| NG_008386.2:g.5733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.20C>T | ENSP00000478839.2:p.Pro7Leu | |
| ENST00000610745.5:c.20C>T MANE Select | ENSP00000478561.1:p.Pro7Leu | |
| ENST00000490576.1:c.20C>T | ENSP00000478839.1:p.Pro7Leu | |
| ENST00000494864.1:c.-70-4059C>T | ENSP00000479876.1:n.-70-4059C>T | |
| ENST00000610745.4:c.20C>T | ENSP00000478561.1:p.Pro7Leu | |
| ENST00000613082.1:n.375+411C>T | ||
| ENST00000614273.1:c.20C>T | ENSP00000483678.1:p.Pro7Leu | |
| NM_000104.3:c.20C>T | NP_000095.2:p.Pro7Leu | |
| NM_000104.4:c.20C>T MANE Select | NP_000095.2:p.Pro7Leu |