Linked Data
dbSNP Id:
rs375138242
ExAC:
7:19156346 G / A
gnomAD v2:
7-19156346-G-A
gnomAD v4:
7-19116723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116723G>A , CM000669.2:g.19116723G>A | GRCh38 |
| NC_000007.13:g.19156346G>A , CM000669.1:g.19156346G>A | GRCh37 |
| NC_000007.12:g.19122871G>A | NCBI36 |
| NG_008114.1:g.5950C>T | |
| NG_008114.2:g.5950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.599C>T MANE Select | ENSP00000242261.5:p.Ala200Val | |
| ENST00000242261.5:c.599C>T | ENSP00000242261.5:p.Ala200Val | |
| ENST00000354571.5:c.396C>T | ||
| ENST00000443687.5:c.202C>T | ||
| NM_000474.3:c.599C>T | NP_000465.1:p.Ala200Val | |
| XM_011515496.1:c.599C>T | XP_011513798.1:p.Ala200Val | |
| NR_149001.1:n.950C>T | ||
| NM_000474.4:c.599C>T MANE Select | NP_000465.1:p.Ala200Val | |
| NR_149001.2:n.914C>T |