Linked Data
ClinVar Variation Id:
257997
dbSNP Id:
rs531483632
ExAC:
5:13717439 G / A
gnomAD v2:
5-13717439-G-A
gnomAD v3:
5-13717330-G-A
gnomAD v4:
5-13717330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717330G>A , CM000667.2:g.13717330G>A | GRCh38 |
| NC_000005.9:g.13717439G>A , CM000667.1:g.13717439G>A | GRCh37 |
| NC_000005.8:g.13770439G>A | NCBI36 |
| NG_013081.1:g.232151C>T | |
| NG_013081.2:g.232151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12690C>T MANE Select | ENSP00000265104.4:p.Asp4230= | |
| ENST00000681290.1:c.12645C>T | ENSP00000505288.1:p.Asp4215= | |
| ENST00000265104.4:c.12690C>T | ENSP00000265104.4:p.Asp4230= | |
| NM_001369.2:c.12690C>T | NP_001360.1:p.Asp4230= | |
| XM_005248262.2:c.12645C>T | XP_005248319.1:p.Asp4215= | |
| XM_005248262.3:c.12798C>T | XP_005248319.2:p.Asp4266= | |
| XM_017009177.1:c.12798C>T | XP_016864666.1:p.Asp4266= | |
| XM_017009178.1:c.11703C>T | XP_016864667.1:p.Asp3901= | |
| XM_017009179.2:c.11703C>T | XP_016864668.1:p.Asp3901= | |
| XM_017009180.1:c.12798C>T | XP_016864669.1:p.Asp4266= | |
| XM_017009185.1:c.7887C>T | XP_016864674.1:p.Asp2629= | |
| XM_017009186.1:c.7440C>T | XP_016864675.1:p.Asp2480= | |
| XM_017009188.1:c.6777C>T | XP_016864677.1:p.Asp2259= | |
| XM_024454388.1:c.11703C>T | XP_024310156.1:p.Asp3901= | |
| XM_024454389.1:c.11292C>T | XP_024310157.1:p.Asp3764= | |
| NM_001369.3:c.12690C>T MANE Select | NP_001360.1:p.Asp4230= |