Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80673316G>T , CM000685.2:g.80673316G>T | GRCh38 |
| NC_000023.10:g.79928815G>T , CM000685.1:g.79928815G>T | GRCh37 |
| NC_000023.9:g.79815471G>T | NCBI36 |
| NG_021349.1:g.141419C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153252.5:c.*3293C>A MANE Select | NP_694984.5:n.*3293C>A |
| ENST00000373275.5:c.*3293C>A MANE Select | ENSP00000362372.4:n.*3293C>A |
| NM_153252.4:c.*3293C>A | NP_694984.4:n.*3293C>A |
| ENST00000373275.4:c.*3293C>A | ENSP00000362372.4:n.*3293C>A |
| XM_005262113.2:c.*3293C>A | XP_005262170.1:n.*3293C>A |
| XM_005262113.3:c.*3293C>A | XP_005262170.1:n.*3293C>A |
| XM_011530903.1:c.*3293C>A | XP_011529205.1:n.*3293C>A |
| XM_011530904.1:c.*3293C>A | XP_011529206.1:n.*3293C>A |