Linked Data
ClinVar Variation Id:
351015
dbSNP Id:
rs146330391
ExAC:
5:13717583 C / T
gnomAD v2:
5-13717583-C-T
gnomAD v3:
5-13717474-C-T
gnomAD v4:
5-13717474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717474C>T , CM000667.2:g.13717474C>T | GRCh38 |
| NC_000005.9:g.13717583C>T , CM000667.1:g.13717583C>T | GRCh37 |
| NC_000005.8:g.13770583C>T | NCBI36 |
| NG_013081.1:g.232007G>A | |
| NG_013081.2:g.232007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12546G>A MANE Select | ENSP00000265104.4:p.Lys4182= | |
| ENST00000681290.1:c.12501G>A | ENSP00000505288.1:p.Lys4167= | |
| ENST00000265104.4:c.12546G>A | ENSP00000265104.4:p.Lys4182= | |
| NM_001369.2:c.12546G>A | NP_001360.1:p.Lys4182= | |
| XM_005248262.2:c.12501G>A | XP_005248319.1:p.Lys4167= | |
| XM_005248262.3:c.12654G>A | XP_005248319.2:p.Lys4218= | |
| XM_017009177.1:c.12654G>A | XP_016864666.1:p.Lys4218= | |
| XM_017009178.1:c.11559G>A | XP_016864667.1:p.Lys3853= | |
| XM_017009179.2:c.11559G>A | XP_016864668.1:p.Lys3853= | |
| XM_017009180.1:c.12654G>A | XP_016864669.1:p.Lys4218= | |
| XM_017009185.1:c.7743G>A | XP_016864674.1:p.Lys2581= | |
| XM_017009186.1:c.7296G>A | XP_016864675.1:p.Lys2432= | |
| XM_017009188.1:c.6633G>A | XP_016864677.1:p.Lys2211= | |
| XM_024454388.1:c.11559G>A | XP_024310156.1:p.Lys3853= | |
| XM_024454389.1:c.11148G>A | XP_024310157.1:p.Lys3716= | |
| NM_001369.3:c.12546G>A MANE Select | NP_001360.1:p.Lys4182= |