Linked Data
ClinVar Variation Id:
282446
dbSNP Id:
rs61756249
ExAC:
7:128597340 G / A
gnomAD v2:
7-128597340-G-A
gnomAD v3:
7-128957286-G-A
gnomAD v4:
7-128957286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128957286G>A , CM000669.2:g.128957286G>A | GRCh38 |
| NC_000007.13:g.128597340G>A , CM000669.1:g.128597340G>A | GRCh37 |
| NC_000007.12:g.128384576G>A | NCBI36 |
| NG_023428.1:g.102888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2741C>T MANE Select | ENSP00000265388.5:p.Ala914Val | |
| ENST00000265388.9:c.2741C>T | ENSP00000265388.5:p.Ala914Val | |
| ENST00000471166.1:c.2843C>T | ENSP00000418267.1:p.Ala948Val | |
| ENST00000471234.5:c.2549C>T | ENSP00000418646.1:p.Ala850Val | |
| ENST00000482320.5:c.2543C>T | ENSP00000420089.1:p.Ala848Val | |
| ENST00000627585.2:c.2843C>T | ENSP00000487231.1:p.Ala948Val | |
| NM_001191028.2:c.2549C>T | NP_001177957.2:p.Ala850Val | |
| NM_012470.3:c.2741C>T | NP_036602.1:p.Ala914Val | |
| NR_034053.2:n.3305C>T | ||
| XM_011515989.1:c.2543C>T | XP_011514291.1:p.Ala848Val | |
| NM_001191028.3:c.2549C>T | NP_001177957.2:p.Ala850Val | |
| NM_001382216.1:c.2843C>T | NP_001369145.1:p.Ala948Val | |
| NM_001382217.1:c.2822C>T | NP_001369146.1:p.Ala941Val | |
| NM_001382218.1:c.2712-1901C>T | NP_001369147.1:n.2712-1901C>T | |
| NM_001382219.1:c.2633C>T | NP_001369148.1:p.Ala878Val | |
| NM_001382220.1:c.2600C>T | NP_001369149.1:p.Ala867Val | |
| NM_001382221.1:c.2597C>T | NP_001369150.1:p.Ala866Val | |
| NM_001382222.1:c.2594C>T | NP_001369151.1:p.Ala865Val | |
| NM_001382223.1:c.2520-1901C>T | NP_001369152.1:n.2520-1901C>T | |
| NM_012470.4:c.2741C>T MANE Select | NP_036602.1:p.Ala914Val | |
| NR_034053.3:n.3243C>T | ||
| NR_167911.1:n.3330C>T | ||
| NR_167912.1:n.3188C>T | ||
| NR_167913.1:n.2990C>T | ||
| NR_167914.1:n.3150C>T | ||
| NR_167915.1:n.3406C>T | ||
| NR_167916.1:n.2880C>T | ||
| NR_167917.1:n.2913C>T | ||
| NR_167918.1:n.3368C>T | ||
| NR_167919.1:n.3207C>T | ||
| NR_167920.1:n.3166C>T | ||
| NR_167921.1:n.3368C>T | ||
| NR_167922.1:n.3204C>T | ||
| NR_167923.1:n.3005C>T | ||
| NR_167924.1:n.3233C>T | ||
| NR_167925.1:n.3005C>T | ||
| NR_167926.1:n.3016C>T | ||
| NR_167927.1:n.3309C>T |