HGVS | Genome Assembly |
---|---|
NC_000007.14:g.96120621C>T , CM000669.2:g.96120621C>T | GRCh38 |
NC_000007.13:g.95749933C>T , CM000669.1:g.95749933C>T | GRCh37 |
NC_000007.12:g.95587869C>T | NCBI36 |
NG_012247.1:g.206527G>A | |
NG_012247.2:g.206527G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265631.10:c.*570G>A MANE Select | ENSP00000265631.6:n.*570G>A | |
ENST00000265631.9:c.*570G>A | ENSP00000265631.5:n.*570G>A | |
ENST00000416240.6:c.*570G>A | ENSP00000400101.2:n.*570G>A | |
NM_001160210.1:c.*570G>A | NP_001153682.1:n.*570G>A | |
NM_014251.2:c.*570G>A | NP_055066.1:n.*570G>A | |
NR_027662.1:n.2673G>A | ||
XM_006715831.2:c.*570G>A | XP_006715894.1:n.*570G>A | |
XM_011515728.1:c.*570G>A | XP_011514030.1:n.*570G>A | |
XM_006715831.4:c.*570G>A | XP_006715894.1:n.*570G>A | |
XM_017011663.1:c.*570G>A | XP_016867152.1:n.*570G>A | |
XM_017011664.2:c.*570G>A | XP_016867153.1:n.*570G>A | |
XM_017011665.1:c.*570G>A | XP_016867154.1:n.*570G>A | |
XR_001744525.2:n.2844G>A | ||
XR_002956405.1:n.3402G>A | ||
NM_014251.3:c.*570G>A MANE Select | NP_055066.1:n.*570G>A | |
NR_027662.2:n.2624G>A | ||
NM_001160210.2:c.*570G>A | NP_001153682.1:n.*570G>A |