HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99835744T>G , CM000672.2:g.99835744T>G | GRCh38 |
NC_000010.10:g.101595501T>G , CM000672.1:g.101595501T>G | GRCh37 |
NC_000010.9:g.101585491T>G | NCBI36 |
NG_011798.1:g.58039T>G | |
NG_011798.2:g.58147T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3415-347T>G MANE Select | ENSP00000497274.1:n.3415-347T>G | |
ENST00000370449.8:c.3415-347T>G | ENSP00000359478.4:n.3415-347T>G | |
NM_000392.4:c.3415-347T>G | NP_000383.1:n.3415-347T>G | |
XM_006717630.2:c.2719-347T>G | XP_006717693.1:n.2719-347T>G | |
XR_945604.1:n.3604-347T>G | ||
XR_945605.1:n.3606-347T>G | ||
NM_000392.5:c.3415-347T>G MANE Select | NP_000383.2:n.3415-347T>G | |
XM_006717630.3:c.2719-347T>G | XP_006717693.1:n.2719-347T>G | |
XR_945604.3:n.3658-347T>G | ||
XR_945605.3:n.3658-347T>G |