Linked Data
dbSNP Id:
rs764006374
ExAC:
6:6145880 A / G
gnomAD v2:
6-6145880-A-G
gnomAD v4:
6-6145647-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145647A>G , CM000668.2:g.6145647A>G | GRCh38 |
| NC_000006.11:g.6145880A>G , CM000668.1:g.6145880A>G | GRCh37 |
| NC_000006.10:g.6090879A>G | NCBI36 |
| NG_008107.1:g.180045T>C , LRG_549:g.180045T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.2171T>C MANE Select | ENSP00000264870.3:p.Val724Ala | |
| ENST00000264870.7:c.2171T>C | ENSP00000264870.3:p.Val724Ala | |
| NM_000129.3:c.2171T>C , LRG_549t1:c.2171T>C | NP_000120.2:p.Val724Ala | |
| XM_006715010.2:c.2171T>C | XP_006715073.1:p.Val724Ala | |
| XM_011514342.1:c.2333T>C | XP_011512644.1:p.Val778Ala | |
| NM_000129.4:c.2171T>C MANE Select | NP_000120.2:p.Val724Ala |