Linked Data
dbSNP Id:
rs1969299734
gnomAD v4:
19-41012443-T-C
MyVariant Identifiers:
chr19:g.41518348T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012443T>C , CM000681.2:g.41012443T>C | GRCh38 |
| NC_000019.9:g.41518348T>C , CM000681.1:g.41518348T>C | GRCh37 |
| NC_000019.8:g.46210188T>C | NCBI36 |
| NG_007929.1:g.26145T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1110T>C MANE Select | ENSP00000324648.2:p.Ile370= | |
| ENST00000598834.2:c.1134T>C | ||
| ENST00000324071.8:c.1110T>C | ENSP00000324648.2:p.Ile370= | |
| ENST00000593831.1:c.402T>C | ENSP00000470582.1:p.Ile134= | |
| ENST00000597612.1:n.605T>C | ||
| NM_000767.4:c.1110T>C | NP_000758.1:p.Ile370= | |
| XM_005258569.3:c.1110T>C | XP_005258626.1:p.Ile370= | |
| XM_006723050.2:c.1110T>C | XP_006723113.1:p.Ile370= | |
| XM_011526546.1:c.1110T>C | XP_011524848.1:p.Ile370= | |
| XM_011526547.1:c.1110T>C | XP_011524849.1:p.Ile370= | |
| XM_011526548.1:c.630T>C | XP_011524850.1:p.Ile210= | |
| XM_011526549.1:c.519T>C | XP_011524851.1:p.Ile173= | |
| XM_011526550.1:c.510T>C | XP_011524852.1:p.Ile170= | |
| NM_000767.5:c.1110T>C MANE Select | NP_000758.1:p.Ile370= |