Linked Data
dbSNP Id:
rs761744619
ExAC:
5:13769204 C / T
gnomAD v2:
5-13769204-C-T
gnomAD v4:
5-13769095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769095C>T , CM000667.2:g.13769095C>T | GRCh38 |
| NC_000005.9:g.13769204C>T , CM000667.1:g.13769204C>T | GRCh37 |
| NC_000005.8:g.13822204C>T | NCBI36 |
| NG_013081.1:g.180386G>A | |
| NG_013081.2:g.180386G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9762G>A MANE Select | ENSP00000265104.4:p.Lys3254= | |
| ENST00000681290.1:c.9717G>A | ENSP00000505288.1:p.Lys3239= | |
| ENST00000265104.4:c.9762G>A | ENSP00000265104.4:p.Lys3254= | |
| ENST00000504001.3:n.474G>A | ||
| NM_001369.2:c.9762G>A | NP_001360.1:p.Lys3254= | |
| XM_005248262.2:c.9717G>A | XP_005248319.1:p.Lys3239= | |
| XM_005248262.3:c.9870G>A | XP_005248319.2:p.Lys3290= | |
| XM_017009177.1:c.9870G>A | XP_016864666.1:p.Lys3290= | |
| XM_017009178.1:c.8775G>A | XP_016864667.1:p.Lys2925= | |
| XM_017009179.2:c.8775G>A | XP_016864668.1:p.Lys2925= | |
| XM_017009180.1:c.9870G>A | XP_016864669.1:p.Lys3290= | |
| XM_017009181.1:c.9870G>A | XP_016864670.1:p.Lys3290= | |
| XM_017009182.1:c.9870G>A | XP_016864671.1:p.Lys3290= | |
| XM_017009185.1:c.4959G>A | XP_016864674.1:p.Lys1653= | |
| XM_017009186.1:c.4512G>A | XP_016864675.1:p.Lys1504= | |
| XM_017009188.1:c.3849G>A | XP_016864677.1:p.Lys1283= | |
| XM_024454388.1:c.8775G>A | XP_024310156.1:p.Lys2925= | |
| XM_024454389.1:c.8364G>A | XP_024310157.1:p.Lys2788= | |
| NM_001369.3:c.9762G>A MANE Select | NP_001360.1:p.Lys3254= |