Linked Data
dbSNP Id:
rs2126509160
gnomAD v3:
5-13717421-T-A
gnomAD v4:
5-13717421-T-A
COSMIC:
COSM3850321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717421T>A , CM000667.2:g.13717421T>A | GRCh38 |
| NC_000005.9:g.13717530T>A , CM000667.1:g.13717530T>A | GRCh37 |
| NC_000005.8:g.13770530T>A | NCBI36 |
| NG_013081.1:g.232060A>T | |
| NG_013081.2:g.232060A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12599A>T MANE Select | ENSP00000265104.4:p.Lys4200Met | |
| ENST00000681290.1:c.12554A>T | ENSP00000505288.1:p.Lys4185Met | |
| ENST00000265104.4:c.12599A>T | ENSP00000265104.4:p.Lys4200Met | |
| NM_001369.2:c.12599A>T | NP_001360.1:p.Lys4200Met | |
| XM_005248262.2:c.12554A>T | XP_005248319.1:p.Lys4185Met | |
| XM_005248262.3:c.12707A>T | XP_005248319.2:p.Lys4236Met | |
| XM_017009177.1:c.12707A>T | XP_016864666.1:p.Lys4236Met | |
| XM_017009178.1:c.11612A>T | XP_016864667.1:p.Lys3871Met | |
| XM_017009179.2:c.11612A>T | XP_016864668.1:p.Lys3871Met | |
| XM_017009180.1:c.12707A>T | XP_016864669.1:p.Lys4236Met | |
| XM_017009185.1:c.7796A>T | XP_016864674.1:p.Lys2599Met | |
| XM_017009186.1:c.7349A>T | XP_016864675.1:p.Lys2450Met | |
| XM_017009188.1:c.6686A>T | XP_016864677.1:p.Lys2229Met | |
| XM_024454388.1:c.11612A>T | XP_024310156.1:p.Lys3871Met | |
| XM_024454389.1:c.11201A>T | XP_024310157.1:p.Lys3734Met | |
| NM_001369.3:c.12599A>T MANE Select | NP_001360.1:p.Lys4200Met |