dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202565733T>A , CM000664.2:g.202565733T>A | GRCh38 |
| NC_000002.11:g.203430456T>A , CM000664.1:g.203430456T>A | GRCh37 |
| NC_000002.10:g.203138701T>A | NCBI36 |
| NG_009363.1:g.194407T>A , LRG_712:g.194407T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.*5787T>A MANE Select | ENSP00000363708.4:n.*5787T>A | |
| ENST00000374574.2:c.*6031T>A | ENSP00000363702.2:n.*6031T>A | |
| ENST00000374580.8:c.*5787T>A | ENSP00000363708.4:n.*5787T>A | |
| NM_001204.6:c.*5787T>A , LRG_712t1:c.*5787T>A | NP_001195.2:n.*5787T>A | |
| XM_011511687.1:c.*5787T>A | XP_011509989.1:n.*5787T>A | |
| NM_001204.7:c.*5787T>A MANE Select | NP_001195.2:n.*5787T>A |