Linked Data
dbSNP Id:
rs374648833
ExAC:
22:20127369 G / T
gnomAD v2:
22-20127369-G-T
gnomAD v3:
22-20139846-G-T
gnomAD v4:
22-20139846-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139846G>T , CM000684.2:g.20139846G>T | GRCh38 |
| NC_000022.10:g.20127369G>T , CM000684.1:g.20127369G>T | GRCh37 |
| NC_000022.9:g.18507369G>T | NCBI36 |
| NG_021420.1:g.13006G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.511G>T MANE Select | ENSP00000334490.7:p.Val171Leu | |
| ENST00000320602.11:c.384+211G>T | ENSP00000317804.7:n.384+211G>T | |
| ENST00000334554.11:c.511G>T | ENSP00000334490.7:p.Val171Leu | |
| ENST00000405930.3:c.511G>T | ENSP00000384716.3:p.Val171Leu | |
| ENST00000436518.5:c.478G>T | ENSP00000412807.1:p.Val160Leu | |
| ENST00000468112.5:n.58-771G>T | ||
| NM_001185024.1:c.511G>T | NP_001171953.1:p.Val171Leu | |
| NM_013373.3:c.511G>T | NP_037505.1:p.Val171Leu | |
| XM_006724239.2:c.511G>T | XP_006724302.1:p.Val171Leu | |
| NM_001185024.2:c.511G>T | NP_001171953.1:p.Val171Leu | |
| NM_013373.4:c.511G>T MANE Select | NP_037505.1:p.Val171Leu |