Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80671095A>G , CM000685.2:g.80671095A>G | GRCh38 |
| NC_000023.10:g.79926594A>G , CM000685.1:g.79926594A>G | GRCh37 |
| NC_000023.9:g.79813250A>G | NCBI36 |
| NG_021349.1:g.143640T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373275.5:c.*5514T>C MANE Select | ENSP00000362372.4:n.*5514T>C | |
| ENST00000373275.4:c.*5514T>C | ENSP00000362372.4:n.*5514T>C | |
| NM_153252.4:c.*5514T>C | NP_694984.4:n.*5514T>C | |
| XM_005262113.2:c.*5514T>C | XP_005262170.1:n.*5514T>C | |
| XM_011530903.1:c.*5514T>C | XP_011529205.1:n.*5514T>C | |
| XM_011530904.1:c.*5514T>C | XP_011529206.1:n.*5514T>C | |
| XM_005262113.3:c.*5514T>C | XP_005262170.1:n.*5514T>C | |
| NM_153252.5:c.*5514T>C MANE Select | NP_694984.5:n.*5514T>C |