Linked Data
ClinVar Variation Id:
498368
dbSNP Id:
rs1326573780
gnomAD v2:
7-128641238-T-C
gnomAD v3:
7-129001184-T-C
gnomAD v4:
7-129001184-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129001184T>C , CM000669.2:g.129001184T>C | GRCh38 |
| NC_000007.13:g.128641238T>C , CM000669.1:g.128641238T>C | GRCh37 |
| NC_000007.12:g.128428474T>C | NCBI36 |
| NG_023428.1:g.58990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.747A>G MANE Select | ENSP00000265388.5:p.Val249= | |
| ENST00000265388.9:c.747A>G | ENSP00000265388.5:p.Val249= | |
| ENST00000471166.1:c.747A>G | ENSP00000418267.1:p.Val249= | |
| ENST00000471234.5:c.747A>G | ENSP00000418646.1:p.Val249= | |
| ENST00000482320.5:c.549A>G | ENSP00000420089.1:p.Val183= | |
| ENST00000627585.2:c.747A>G | ENSP00000487231.1:p.Val249= | |
| NM_001191028.2:c.747A>G | NP_001177957.2:p.Val249= | |
| NM_012470.3:c.747A>G | NP_036602.1:p.Val249= | |
| NR_034053.2:n.1311A>G | ||
| XM_011515989.1:c.549A>G | XP_011514291.1:p.Val183= | |
| NM_001191028.3:c.747A>G | NP_001177957.2:p.Val249= | |
| NM_001382216.1:c.747A>G | NP_001369145.1:p.Val249= | |
| NM_001382217.1:c.828A>G | NP_001369146.1:p.Val276= | |
| NM_001382218.1:c.747A>G | NP_001369147.1:p.Val249= | |
| NM_001382219.1:c.747A>G | NP_001369148.1:p.Val249= | |
| NM_001382220.1:c.747A>G | NP_001369149.1:p.Val249= | |
| NM_001382221.1:c.603A>G | NP_001369150.1:p.Val201= | |
| NM_001382222.1:c.747A>G | NP_001369151.1:p.Val249= | |
| NM_001382223.1:c.747A>G | NP_001369152.1:p.Val249= | |
| NM_012470.4:c.747A>G MANE Select | NP_036602.1:p.Val249= | |
| NR_034053.3:n.1249A>G | ||
| NR_167911.1:n.1336A>G | ||
| NR_167912.1:n.1088A>G | ||
| NR_167913.1:n.1088A>G | ||
| NR_167914.1:n.1088A>G | ||
| NR_167915.1:n.1249A>G | ||
| NR_167916.1:n.1088A>G | ||
| NR_167917.1:n.1088A>G | ||
| NR_167918.1:n.1374A>G | ||
| NR_167919.1:n.1213A>G | ||
| NR_167920.1:n.1374A>G | ||
| NR_167921.1:n.1374A>G | ||
| NR_167922.1:n.1210A>G | ||
| NR_167923.1:n.1213A>G | ||
| NR_167924.1:n.1088A>G | ||
| NR_167925.1:n.1088A>G | ||
| NR_167926.1:n.1371A>G | ||
| NR_167927.1:n.1213A>G |