Linked Data
dbSNP Id:
rs11096957
ExAC:
4:38776491 T / G
gnomAD v2:
4-38776491-T-G
gnomAD v3:
4-38774870-T-G
gnomAD v4:
4-38774870-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38774870T>G , CM000666.2:g.38774870T>G | GRCh38 |
| NC_000004.11:g.38776491T>G , CM000666.1:g.38776491T>G | GRCh37 |
| NC_000004.10:g.38452886T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308973.9:c.721A>C MANE Select | ENSP00000308925.4:p.Asn241His | |
| ENST00000308973.8:c.721A>C | ENSP00000308925.4:p.Asn241His | |
| ENST00000361424.6:c.721A>C | ENSP00000354459.2:p.Asn241His | |
| ENST00000506111.1:c.721A>C | ENSP00000421483.1:p.Asn241His | |
| ENST00000508334.1:c.721A>C | ENSP00000424923.1:p.Asn241His | |
| ENST00000613579.4:c.721A>C | ENSP00000478206.1:p.Asn241His | |
| ENST00000622002.4:c.721A>C | ENSP00000478985.1:p.Asn241His | |
| NM_001017388.2:c.721A>C | NP_001017388.1:p.Asn241His | |
| NM_001195106.1:c.721A>C | NP_001182035.1:p.Asn241His | |
| NM_001195107.1:c.721A>C | NP_001182036.1:p.Asn241His | |
| NM_001195108.1:c.679A>C | NP_001182037.1:p.Asn227His | |
| NM_030956.3:c.721A>C | NP_112218.2:p.Asn241His | |
| XM_011513760.1:c.679A>C | XP_011512062.1:p.Asn227His | |
| XM_011513761.1:c.721A>C | XP_011512063.1:p.Asn241His | |
| XM_011513762.1:c.721A>C | XP_011512064.1:p.Asn241His | |
| XM_011513760.2:c.679A>C | XP_011512062.1:p.Asn227His | |
| XM_011513761.2:c.721A>C | XP_011512063.1:p.Asn241His | |
| XM_011513762.2:c.721A>C | XP_011512064.1:p.Asn241His | |
| NM_030956.4:c.721A>C MANE Select | NP_112218.2:p.Asn241His | |
| NM_001195108.2:c.679A>C | NP_001182037.1:p.Asn227His | |
| NM_001017388.3:c.721A>C | NP_001017388.1:p.Asn241His | |
| NM_001195106.2:c.721A>C | NP_001182035.1:p.Asn241His | |
| NM_001195107.2:c.721A>C | NP_001182036.1:p.Asn241His |