Linked Data
ClinVar Variation Id:
305914
dbSNP Id:
rs782210973
ExAC:
11:70820998 G / A
gnomAD v2:
11-70820998-G-A
gnomAD v3:
11-71109952-G-A
gnomAD v4:
11-71109952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71109952G>A , CM000673.2:g.71109952G>A | GRCh38 |
| NC_000011.9:g.70820998G>A , CM000673.1:g.70820998G>A | GRCh37 |
| NC_000011.8:g.70498646G>A | NCBI36 |
| NG_042866.1:g.119845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601538.6:c.581C>T MANE Select | ENSP00000469689.2:p.Pro194Leu | |
| ENST00000601538.5:c.581C>T | ENSP00000469689.2:p.Pro194Leu | |
| ENST00000608988.5:c.*144C>T | ENSP00000476264.2:n.*144C>T | |
| NM_012309.4:c.581C>T | NP_036441.2:p.Pro194Leu | |
| XM_005277930.2:c.581C>T | XP_005277987.1:p.Pro194Leu | |
| XM_006718478.2:c.581C>T | XP_006718541.1:p.Pro194Leu | |
| XM_011544854.1:c.581C>T | XP_011543156.1:p.Pro194Leu | |
| XM_011544855.1:c.581C>T | XP_011543157.1:p.Pro194Leu | |
| XM_011544856.1:c.581C>T | XP_011543158.1:p.Pro194Leu | |
| XM_011544857.1:c.581C>T | XP_011543159.1:p.Pro194Leu | |
| XM_011544858.1:c.581C>T | XP_011543160.1:p.Pro194Leu | |
| XM_017017387.1:c.581C>T | XP_016872876.1:p.Pro194Leu | |
| XM_017017388.1:c.581C>T | XP_016872877.1:p.Pro194Leu | |
| XM_017017389.1:c.581C>T | XP_016872878.1:p.Pro194Leu | |
| NM_012309.5:c.581C>T MANE Select | NP_036441.2:p.Pro194Leu |