Linked Data
ClinVar Variation Id:
351221
dbSNP Id:
rs763709302
ExAC:
5:13922411 C / T
gnomAD v2:
5-13922411-C-T
gnomAD v3:
5-13922302-C-T
gnomAD v4:
5-13922302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13922302C>T , CM000667.2:g.13922302C>T | GRCh38 |
| NC_000005.9:g.13922411C>T , CM000667.1:g.13922411C>T | GRCh37 |
| NC_000005.8:g.13975411C>T | NCBI36 |
| NG_013081.1:g.27179G>A | |
| NG_013081.2:g.27179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.521G>A | ||
| ENST00000682376.1:n.509G>A | ||
| ENST00000682586.1:n.509G>A | ||
| ENST00000683011.1:n.404G>A | ||
| ENST00000683967.1:n.515G>A | ||
| ENST00000684013.1:n.515G>A | ||
| ENST00000684099.1:n.560G>A | ||
| ENST00000265104.5:c.465G>A MANE Select | ENSP00000265104.4:p.Ala155= | |
| ENST00000680213.1:c.225G>A | ENSP00000506622.1:p.Ala75= | |
| ENST00000681290.1:c.420G>A | ENSP00000505288.1:p.Ala140= | |
| ENST00000265104.4:c.465G>A | ENSP00000265104.4:p.Ala155= | |
| ENST00000508040.1:n.824G>A | ||
| NM_001369.2:c.465G>A | NP_001360.1:p.Ala155= | |
| XM_005248262.2:c.420G>A | XP_005248319.1:p.Ala140= | |
| XM_011513990.1:c.465G>A | XP_011512292.1:p.Ala155= | |
| XR_925598.1:n.672G>A | ||
| XM_005248262.3:c.573G>A | XP_005248319.2:p.Ala191= | |
| XM_017009177.1:c.573G>A | XP_016864666.1:p.Ala191= | |
| XM_017009178.1:c.-572G>A | XP_016864667.1:n.-572G>A | |
| XM_017009180.1:c.573G>A | XP_016864669.1:p.Ala191= | |
| XM_017009181.1:c.573G>A | XP_016864670.1:p.Ala191= | |
| XM_017009182.1:c.573G>A | XP_016864671.1:p.Ala191= | |
| XM_017009183.1:c.573G>A | XP_016864672.1:p.Ala191= | |
| XM_017009184.1:c.573G>A | XP_016864673.1:p.Ala191= | |
| XM_017009187.1:c.573G>A | XP_016864676.1:p.Ala191= | |
| XM_024454388.1:c.-2442G>A | XP_024310156.1:n.-2442G>A | |
| XM_024454389.1:c.-1495G>A | XP_024310157.1:n.-1495G>A | |
| XR_001742034.1:n.590G>A | ||
| XR_001742035.1:n.590G>A | ||
| NM_001369.3:c.465G>A MANE Select | NP_001360.1:p.Ala155= |