Linked Data
ClinVar Variation Id:
2046726
ClinVar RCV Id:
RCV002926672
dbSNP Id:
rs764406816
ExAC:
7:16131413 C / T
gnomAD v2:
7-16131413-C-T
gnomAD v3:
7-16091788-C-T
gnomAD v4:
7-16091788-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16091788C>T , CM000669.2:g.16091788C>T | GRCh38 |
| NC_000007.13:g.16131413C>T , CM000669.1:g.16131413C>T | GRCh37 |
| NC_000007.12:g.16097938C>T | NCBI36 |
| NG_032690.1:g.334535G>A | |
| NG_032690.2:g.334535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.1263G>A MANE Select | ENSP00000385478.2:p.Lys421= | |
| ENST00000675257.1:c.855G>A | ENSP00000501664.1:p.Lys285= | |
| ENST00000676325.1:c.960G>A | ENSP00000502074.1:p.Lys320= | |
| ENST00000399310.3:c.1113G>A | ENSP00000382249.3:p.Lys371= | |
| ENST00000407010.6:c.1263G>A | ENSP00000385478.2:p.Lys421= | |
| NM_001101417.3:c.1113G>A | NP_001094887.1:p.Lys371= | |
| NM_001101426.3:c.1263G>A | NP_001094896.1:p.Lys421= | |
| XM_006715770.2:c.1014G>A | XP_006715833.1:p.Lys338= | |
| XM_011515498.1:c.1251+124278G>A | XP_011513800.1:n.1251+124278G>A | |
| XM_011515500.1:c.1158G>A | XP_011513802.1:p.Lys386= | |
| XM_011515502.1:c.960G>A | XP_011513804.1:p.Lys320= | |
| XM_011515503.1:c.960G>A | XP_011513805.1:p.Lys320= | |
| XM_011515504.1:c.960G>A | XP_011513806.1:p.Lys320= | |
| XM_011515505.1:c.960G>A | XP_011513807.1:p.Lys320= | |
| XM_011515506.1:c.960G>A | XP_011513808.1:p.Lys320= | |
| XM_011515507.1:c.960G>A | XP_011513809.1:p.Lys320= | |
| XM_011515508.1:c.960G>A | XP_011513810.1:p.Lys320= | |
| XM_011515509.1:c.960G>A | XP_011513811.1:p.Lys320= | |
| XM_006715770.3:c.1014G>A | XP_006715833.1:p.Lys338= | |
| XM_011515500.2:c.1158G>A | XP_011513802.1:p.Lys386= | |
| XM_011515508.2:c.960G>A | XP_011513810.1:p.Lys320= | |
| XM_011515509.2:c.960G>A | XP_011513811.1:p.Lys320= | |
| XM_017012577.1:c.627G>A | XP_016868066.1:p.Lys209= | |
| XM_017012578.1:c.627G>A | XP_016868067.1:p.Lys209= | |
| XM_024446909.1:c.960G>A | XP_024302677.1:p.Lys320= | |
| XM_024446910.1:c.960G>A | XP_024302678.1:p.Lys320= | |
| XM_024446911.1:c.855G>A | XP_024302679.1:p.Lys285= | |
| XR_001744868.1:n.1271G>A | ||
| NM_001101426.4:c.1263G>A MANE Select | NP_001094896.1:p.Lys421= | |
| NM_001101417.4:c.1113G>A | NP_001094887.1:p.Lys371= | |
| NM_001368197.1:c.1158G>A | NP_001355126.1:p.Lys386= | |
| NR_160656.1:n.1328G>A |