Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348985T>C , CM000675.2:g.48348985T>C | GRCh38 |
| NC_000013.10:g.48923121T>C , CM000675.1:g.48923121T>C | GRCh37 |
| NC_000013.9:g.47821122T>C | NCBI36 |
| NG_009009.1:g.50239T>C , LRG_517:g.50239T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.569T>C MANE Select | ENSP00000267163.4:p.Val190Ala | |
| ENST00000650461.1:c.569T>C | ENSP00000497193.1:p.Val190Ala | |
| ENST00000267163.4:c.569T>C | ENSP00000267163.4:p.Val190Ala | |
| ENST00000467505.5:c.138-11032T>C | ENSP00000434702.1:n.138-11032T>C | |
| ENST00000525036.1:n.731T>C | ||
| NM_000321.2:c.569T>C , LRG_517t1:c.569T>C | NP_000312.2:p.Val190Ala | |
| XM_011535171.1:c.308T>C | XP_011533473.1:p.Val103Ala | |
| XM_011535171.2:c.308T>C | XP_011533473.1:p.Val103Ala | |
| NM_000321.3:c.569T>C MANE Select | NP_000312.2:p.Val190Ala |