Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69960749G>T , CM000664.2:g.69960749G>T | GRCh38 |
| NC_000002.11:g.70187881G>T , CM000664.1:g.70187881G>T | GRCh37 |
| NC_000002.10:g.70041385G>T | NCBI36 |
| NG_054918.1:g.6517C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152792.4:c.688C>A MANE Select | NP_690005.3:p.Pro230Thr |
| ENST00000320256.6:c.688C>A MANE Select | ENSP00000315383.5:p.Pro230Thr |
| NM_152792.2:c.940C>A | NP_690005.2:p.Pro314Thr |
| NR_170375.1:n.1100+14806C>A | |
| NR_170376.1:n.701-16831C>A | |
| NR_170631.1:n.3231C>A | |
| NR_170632.1:n.3381C>A | |
| NR_170634.1:n.3293C>A | |
| NR_170635.1:n.3546C>A | |
| NR_170636.1:n.4158C>A | |
| NR_170637.1:n.3493C>A | |
| NR_170638.1:n.3636C>A | |
| NR_170639.1:n.3506C>A | |
| ENST00000320256.5:c.940C>A | ENSP00000315383.4:p.Pro314Thr |