HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863119T>C , CM000685.2:g.154863119T>C | GRCh38 |
NC_000023.10:g.154091394T>C , CM000685.1:g.154091394T>C | GRCh37 |
NC_000023.9:g.153744588T>C | NCBI36 |
NG_011403.1:g.164605A>G | |
NG_011403.2:g.164605A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6538A>G MANE Select | ENSP00000353393.4:p.Thr2180Ala | |
ENST00000644698.1:c.271A>G | ENSP00000495706.1:p.Thr91Ala | |
ENST00000330287.10:c.133A>G | ENSP00000327895.6:p.Thr45Ala | |
ENST00000360256.8:c.6538A>G | ENSP00000353393.4:p.Thr2180Ala | |
NM_000132.3:c.6538A>G | NP_000123.1:p.Thr2180Ala | |
NM_019863.2:c.133A>G | NP_063916.1:p.Thr45Ala | |
XM_011531126.1:c.6433A>G | XP_011529428.1:p.Thr2145Ala | |
NM_000132.4:c.6538A>G MANE Select | NP_000123.1:p.Thr2180Ala | |
NM_019863.3:c.133A>G | NP_063916.1:p.Thr45Ala |