Linked Data
ClinVar Variation Id:
358403
dbSNP Id:
rs375118721
ExAC:
7:103214616 G / C
gnomAD v2:
7-103214616-G-C
gnomAD v3:
7-103574169-G-C
gnomAD v4:
7-103574169-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103574169G>C , CM000669.2:g.103574169G>C | GRCh38 |
| NC_000007.13:g.103214616G>C , CM000669.1:g.103214616G>C | GRCh37 |
| NC_000007.12:g.103001852G>C | NCBI36 |
| NG_011877.1:g.420348C>G | |
| NG_011877.2:g.420348C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.4434C>G | ENSP00000388446.3:p.Asn1478Lys | |
| ENST00000428762.6:c.4434C>G MANE Select | ENSP00000392423.1:p.Asn1478Lys | |
| ENST00000679867.1:n.4318C>G | ||
| ENST00000680706.1:n.2137C>G | ||
| ENST00000681034.1:c.4434C>G | ENSP00000506075.1:p.Asn1478Lys | |
| ENST00000343529.9:c.4434C>G | ENSP00000345694.5:p.Asn1478Lys | |
| ENST00000424685.2:c.4434C>G | ENSP00000388446.2:p.Asn1478Lys | |
| ENST00000428762.5:c.4434C>G | ENSP00000392423.1:p.Asn1478Lys | |
| NM_005045.3:c.4434C>G | NP_005036.2:p.Asn1478Lys | |
| NM_173054.2:c.4434C>G | NP_774959.1:p.Asn1478Lys | |
| NM_005045.4:c.4434C>G MANE Select | NP_005036.2:p.Asn1478Lys | |
| NM_173054.3:c.4434C>G | NP_774959.1:p.Asn1478Lys |